Allergic and immunologic diseases: a practical guide to the evaluation, diagnosis and management of allergic and immunologic diseases
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[2022]
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| ISBN: | 9780323950619 |
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| adam_text | Contents List of contributors Preface xliii li Volume 1 Section A Background 1. з Introduction Christopher Chang 2. The origin of allergy and immunology as a specialty The role of allergy and immunology in the world of medicine The allergy and immunology workforce in the United States Training of allergy and immunology specialists Professional organizations Allergy and immunology journals Summary References 4 5 6 8 9 9 16 16 A brief history of allergy and immunology 17 Kranthi Nomula, Kyndra Liburd, Xiang Ge, JinLyu Sun and Christopher Chang Introduction An early history of immunology The age of vaccines Discovery of cellular and humoral components of immunity Complement Allergic diseases and early descriptions and treatment of hay fever and food allergy Blood typing, transfusions, and plasma proteins Early studies on transplantation A modern history of allergy and immunology Molecular immunology and the biotechnology revolution 18 18 18 19 21 22 23 25 25 26
viii 3. Contents Immortal cells and the ability to produce monoclonal antibodies The 21st century—a brave new world Checkpoint inhibitors and the modern treatment of cancer COVI D-19 Conclusion References 28 28 39 39 40 41 Basic immunology 43 Christopher Chang Introduction Primary and secondary lymphoid organs Innate and adaptive immunity Characteristics and attributes of the human immune system Rapidity of response Diversity of response Specificity of the response Strength (amplification) of the response Regulation of the response Immunological concepts Autoimmunity and immune tolerance Protein phosphorylation The ability to recall—immunological memory Apoptosis and autophagy Immunosenescence Epigenetics Immune paradigms T helper cell paradigms Thl 7—Treg paradigm Stromal immunology Cellular immunity—cells of the immune system Granulocytes Mononuclear cells Lymphocytes Natural killer cells Monocytes and macrophages Ontogeny of immune cells and antibodies T cell—dependent and T cell—independent antigens Humoral immunity—immunoglobulins and other molecules Antigen recognition Cytokines Chemokines Growth factors Complement Computational immunology Summary and conclusions References 44 45 45 46 46 46 49 49 50 51 51 52 53 53 54 55 55 55 56 56 57 57 59 59 65 65 66 66 67 67 72 72 78 78 86 86 86
Contents 4. ix The allergy and immunology history and physical 89 Hanadys Ale, Marlen Rodriguez and Wilfredo Cosme-Blanco Introduction The allergy and immunology chief complaint and its relevance The main elements of history taking The history of the present illness The past medical history Family history Environmental history Social history Review of systems Essentials of the clinical history and physical exam approach in a patient with ocularcomplaints Clinical history Physical exam Essentials of the clinical history and physical exam approach in a patient with upperrespiratory complaints Clinical history Physical examination Essentials of the clinical history and physical exam approach in a patient with lowerrespiratory complaints Clinical history Physical exam Essentials of the clinical history and physical exam approach in a patient with skin complaints Clinical history Physical exam Essentials of the clinical history and physical exam approach in a patient with gastrointestinalcomplaints Clinical history Physical exam Essentials of the clinical history and physical exam approach in a patient with recurrent infections Clinical history Physical exam Conclusions Acknowledgments References 5. 90 91 91 92 92 92 92 93 93 94 94 96 98 98 99 101 101 101 102 102 104 105 105 106 109 109 110 111 111 117 Basic genetics and epigenetics for the immunologist and allergist 119 Meng Chen, Stéphanie Lejeune, Xiaoying Zhou and Kari Nadeau Introduction The human genome and the genetic code Epigenetic modifications 120 120 121
x Contents 121 125 127 127 127 127 131 132 132 133 134 134 135 135 135 136 136 138 138 138 138 138 139 139 Types of genetic studies Gene—environment interactions Ongoing research and future areas of research Diagnostic tools Genetic and epigenetic basis of allergic disease Atopic dermatitis Asthma Allergic rhinitis Food allergy Drug allergy Genetic and epigenetic basis of immunologic diseases Primary immunodeficiency Hereditary angioedema Applications of genetics and epigenetics Understanding endotypes Predicting who will be affected Predicting response to treatment Challenges and limitations of genetic testing Interpretation Cost Accessibility Ethical considerations Conclusions References 6. Laboratory skills for immunologists: utility and limitations with emphasis on allergy research 145 Rasika Patkar, Christine Y.Y Wai, Nicki Y.H. Leung, Iris Nkamba, Shang An Shu and Patrick S.C. Leung Abbreviations Introduction Section 1: Western blotting Overview Preparation and procedure Data analysis Applications Section 2: Enzyme-linked immunosorbent assay Overview Preparation and procedure Data analysis Applications Section 3: Flow cytometry Overview Preparation and procedure Data analysis Applications 146 148 150 150 150 152 152 154 154 154 157 157 158 158 158 161 163
Contents Section 4: Basophil activation test Overview Preparation and procedure Dataanalysis Applications Section 5: Microarray Overview Preparation and procedure Dataanalysis Applications Section 6: Animal models Overview Preparation and procedure Dataanalysis Applications Conclusion Future directions and challenges Western blotting ELISA Flow cytometry BAT Microarray Animal models References 7. xi 165 165 165 167 168 169 169 169 170 171 172 172 172 175 175 176 1 76 176 177 177 177 177 179 179 Developments and emerging technologies in allergic and immunologic disease management 187 Nicki Y.H. Leung, Christine Y.Y Wai, Tihong Shao, Ka Hou Chu and Patrick S.C. Leung Abbreviations Introduction Section 1: Diagnosis of allergic diseases Component-resolved diagnosis Molecular microarray for the diagnosis of allergic diseases Basophil activation test Section 2: Latest development of allergen-specific immunotherapy Novel routes of AIT Novel adjuvants of AIT Virus-like particles for AIT DNA vaccines for AIT Section 3: Omics in the management of allergic diseases Multiomics approach on severefood-associated respiratory allergy Multiomics approach on reaction severity in peanut allergy Section 4: Artificial intelligence in the management of allergic diseases Al in asthma research Al in food allergy research 187 189 190 1 90 192 193 193 194 1 97 198 198 199 203 203 204 204 205
xii Contents Al in atopic dermatitis research 206 Section 5: Omics and Al in the management of immunodeficiency diseases and autoimmune diseases 206 Concluding remarks—implications of novel technologies in allergy and immunology research and care 210 References 211 8. Genomics technologies and bioinformatics in allergy and immunology 221 Satishkumar Ranganathan Ganakammal, Ke Huang, Magdalena Walkiewicz and Sandhya Xirasagar Introduction Types of genetic diseases and variants High throughput methods Chromosomal microarray Sanger sequencing Next-generation sequencing Application of high-throughput sequencing Research variants Downstream exploratory analysis Data science and big data analytics Importance of scalable infrastructure and data standardization Conclusion Acknowledgment References 222 223 224 224 225 225 232 240 240 245 248 251 251 251 Section В Diagnosis of allergic diseases 9. Epicutaneous and intradermal skin testing 263 Divya Seth and Pavadee Poowuttikul Introduction Mechanism of skin response Indications of skin testing Allergic rhinitis/conjunctivitis Food allergy Drug allergy Insect sting allergy Latex allergy Allergic broncho-pulmonary aspergillosis Factors affecting skin testing Medications Allergen extracts Skin test sites 264 265 266 266 266 266 266 2θ7 267 267 267 272 771
Contents xiii Physiological characteristics 273 Number of skin test 275 Selection of allergens 275 Cross-reactivity 277 Methods of skin testing 279 Prick-puncture tests 280 Intradermal tests 287 False-positive and false-negative skin test results 291 The use of skin tests for nondiagnostic purposes 292 Standardization of allergens 292 Immunotherapy studies 293 Pharmacologic studies 293 Epidemiological studies 293 Correlation with other diagnostic tests for diagnosing allergic diseases 293 In vitro tests/serology 293 In vivo tests/allergen challenges 294 Conclusion 295 References 295 10. Skin prick testing for foods 303 Roxanne C. Oriel and Scott H. Sicherer Introduction Approach to food allergy diagnosis Pathophysiology of immunoglobulin E-mediated food allergy and rationale for skin prick testing to foods Skin prick testing procedure Skin prick test measurement Skin prick test interpretation Skin prick testing variability Device type variability Quantity of antigen Limitations of skin prick testing Safety Conclusions References 11. Jn vitro methods to assess allergy 304 304 308 311 314 314 316 316 317 317 318 318 318 323 Nicole Akar-Chibril and Christopher Chang Introduction Total IgE levels Allergen-specific IgE In vitro testing for environmental allergens In vitro testing for food allergens In vitro testing for venom allergy In vitro testing for latex 324 325 326 334 334 335 336
xiv Contents In vitro testing for drugs In vitro testing for occupational protein allergens Tryptase In vitro tests primarily used in research-basophil tests and eosinophil cationic protein Unvalidated in vitro tests Conclusion References 12. 337 338 338 339 340 340 Oral food challenges 345 Christopher Chang, Nicole Akar-Ghibril and Kathleen Hathaway Introduction Epidemiology of food allergies The heterogeneity of adverse food reactions Oral food challenges Selection of the patient for an oral foodchallenge Setting up the site for conducting oral foodchallenges Preparing the patient for an oral foodchallenge Shared decision making Informed consent Oral food challenge procedure Before the challenge The day of the challenge Terminating the challenge Documentation of the challenge results Postchallenge management A positive challenge A negative challenge Discharge instructions Special populations Oral food challenges in the infant Oral food challenges in the adult patient Specific foods Baked food challenges Variations on oral food challenges Food-dependent exercise-induced anaphylaxis Oral food challenges for food protein—inducedenterocolitis syndrome Frequently asked questions Conclusions References 13. Physical urticarias: diagnosis and testing 346 346 346 349 349 351 355 355 356 358 358 361 361 373 373 373 373 374 374 374 375 375 375 378 378 381 383 384 384 389 Karen Μ. Anstey and Iris Μ. Otani Introduction General recommendations for provocationtesting 39Q 390
Contents Symptomatic dermographism Characteristics Provocation testing Delayed pressure—induced urticaria Characteristics Provocation Testing Cold-contact urticaria Characteristics Provocation testing Heat-contact urticaria Characteristics Provocation testing Solar urticaria Characteristics Testing Vibratory urticaria Characteristics Provocation testing Conclusion Conflict of interest References 14. Techniques to evaluate asthma XV 391 391 391 392 392 393 393 393 394 395 395 395 396 396 396 396 396 397 397 397 397 401 Gerald B. Lee and Katherine L. Tison Introduction Subjective evaluations Physiologic evaluations Pulmonary function testing Peak flow monitoring Impulse oscillometry Bronchoprovocation with direct and indirect challenge testing Mechanisticevaluations Total and allergen-specific immunoglobulin E Peripheral blood eosinophils Sputum eosinophils Fractional exhaled nitric oxide Periostin T2-low biomarkers Conclusion References 15. Drug allergy testing 402 403 404 404 409 409 409 412 413 413 413 413 414 414 416 416 419 Min j. Lee and Jeffrey Μ. Chambliss Introduction Types of adverse drug reactions 420 420
xvi 16. Contents Evaluation of immediate drug reactions Skin testing other drug classes Laboratory studies and in vitro testing Direct oral challenge Evaluation of delayed hypersensitivity reactions Discussion/Conclusion References 421 423 431 432 433 436 436 Diagnosis and management of rhinitis and rhinosinusitis 441 Auddie Μ. Sweis and David W. Kennedy 442 442 443 443 444 444 445 450 452 454 457 459 461 462 Introduction Definition Epidemiology Etiology and pathogenesis Clinical presentation Patient demographics/signs and symptoms Diagnostics Typical computed tomography radiographic features Medical management and outcomes Topical therapy Systemic therapy Surgical management and outcomes Conclusion References 17. Approach to the rash from an allergy and immunology perspective 471 Sonam Sani and Luz Fonacier Introduction Eczematous rashes Atopic dermatitis Introduction Pathophysiology Clinical features Diagnosis Contact dermatitis Introduction Pathophysiology Clinical features Diagnosis Seborrheic dermatitis Introduction Pathophysiology Clinical features 472 473 473 473 473 474 474 474 474 475 475 476 476 476 477 477
Contents Diagnosis Nummular eczema Introduction Pathophysiology Clinical features Diagnosis Lichen simplex chronicus/prurigo nodularis Introduction Pathophysiology Clinical features Diagnosis Mycosis fungoides Introduction Pathophysiology Clinical features Diagnosis Urticarial rashes Acute urticaria Chronic urticaria Introduction Pathophysiology Clinical features Diagnosis Physical urticaria Dermatographism Cholinergic Cold induced Aquagenic Solar Vibratory angioedema/urticaria Delayed pressure Urticarial vasculitis Introduction Pathophysiology Clinical features Diagnosis Cutaneous mastocytosis Introduction Pathophysiology Clinical features Diagnosis Papulosquamous disorders Psoriasis Pityriasis rosea Lichen planus Drug eruptions Exanthematous/maculopapular drug eruption xvii 478 478 478 478 478 478 479 479 479 479 480 480 480 480 480 481 481 481 484 484 484 485 485 486 486 486 487 487 487 488 488 488 488 489 489 490 491 491 491 491 492 492 492 495 496 497 497
xviii Contents Stevens—Johnson syndrome/toxic epidermal necrolysis Introduction Pathophysiology Clinical features Diagnosis Drug reaction with eosinophilia and systemic symptoms Introduction Pathophysiology Clinical features Diagnosis Acute generalized exanthematous pustulosis Introduction Pathophysiology Clinical features Diagnosis Fixed drug eruption Introduction Pathophysiology Clinical features Diagnosis Bullous disorders Bullous pemphigoid Pemphigus vulgaris Introduction Pathophysiology Clinical features Diagnosis Conclusion References 498 498 498 498 499 500 500 500 500 501 501 501 502 502 502 502 502 503 503 503 503 503 505 505 505 505 505 505 506 18. Patch testing and the evaluation of contact allergy 511 Stephanie L Mawhirt and Luz Fonacier Abbreviations Introduction Pathophysiology Clinical history Physical examination Histologic findings Site-specific considerations Face and neck Eyehd L|p Hand Foot Axillary Ano-genital region 512 513 514 51 5 51g 520 520 520 520 521 ^2 -1 521 ^21 շշշ
Contents Other important considerations Allergic contact dermatitis in children Atopic dermatitis Systemic contact dermatitis Allergens causing allergic contact dermatitis Nickel sulfate Fragrances Balsam of Peru Preservatives Methylchloroisothiazolinone/methylisothiazolinone and methylisothiazolinone Paraben p-Phenylenediamine Lanolin Cocamidopropyl betaine Rubber Medications Corticosteroids Patch testing and patch test allergens Patch testing technique Patch test reading and interpretation False-positive and false-negative patch testing results Determining clinical relevance Repeat open application test and use test Management: allergen avoidance and treatment Conclusion References 19. Skin biopsies: their utility to allergists and immunologists xix 522 522 522 524 524 527 528 528 528 529 529 529 530 530 530 530 531 531 532 532 534 534 534 535 536 536 543 Maxwell A. Fung, Smita Awasthi, Samuel T. Hwang and Joyce S. Lee Introduction Biopsy types Direct immunofluorescence testing Eczematous reactions Atopic dermatitis (eczema) Contact dermatitis Dyshidrotic dermatitis (dyshidrosis, pompholyx) Id reaction (autoeczematization) Nummular dermatitis Seborrheic dermatitis Stasis dermatitis Xerotic (asteatotic) dermatitis Urticarial eruptions Urticaria Urticarial vasculitis Neutrophilic urticarial dermatosis 550 551 552 552 552 553 554 554 554 554 554 555 555 555 556 556
xx Contents Urticarial dermatitis Papular urticaria Other urticarial reactions Autoinflammatory syndromes ADAMI 7 deficiency Aicardi-Coutières syndrome API S3 and autoinflammatory psoriasis Autoimmunity and PLC^-associated antibody deficiency and immune dysrégulation Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia Behçet syndrome Blau syndrome CANDLE syndrome CARD! 4-mediated psoriasis Cryopyrin-associated periodic syndromes Deficiency of adenosine deaminase 2 Deficiency of interleukin-1 receptor antagonist Familial chilblain lupus Familial Mediterranean fever H syndrome Majeed syndrome NLRP1-associated disease NLRP12-associated autoinflammatory disease Pyogenic sterile arthritis, pyoderma gangrenosum, acne PLC i2-associated antibody deficiency and immune dysrégulation Singleton—Merton syndrome Schnitzler syndrome Spondyloenchondrodysplasia with immune dysrégulation STING-associated vasculopathy with onset in infancy Synovitis, arthritis, pustulosis, hyperostosis, osteitis Tumor necrosis factor receptor—associated periodic syndrome Immunodeficiency syndromes Ataxia-telangiectasia Chediak—Higashi syndrome Chronic granulomatous disease (Bridges—Good syndrome, Quie syndrome) Combined immunodeficiency Common variable immunodeficiency DiGeorge syndrome (22q11.2 deletion) Griscelli syndrome Good syndrome Hemophagocytic lymphohistiocytosis Hereditary angioedema Hyper-lgE syndrome Immunodysregulation polyendocrinopathy enteropathy X-linked syndrome 556 557 557 557 558 558 558 558 558 559 559 559 559 560 560 560 560 561 561 561 561 561 561 562 562 562 562 562
563 563 563 563 563 564 564 564 564 565 555 565 565 565 566
Contents 20. xxi Leukocyte adhesion deficiency Netherton syndrome Nijmegen breakage syndrome Severe combined immunodeficiency Wiskott-Aldrich syndrome X-linked agammaglobulinemia (Bruton disease) Other inflammatory disorders of the skin Autoimmune diseases Granulomatous dermatitis Immunobullous disorders Morbilliform eruptions Acknowledgment References 566 566 566 566 567 567 567 567 568 568 569 569 569 Evaluation and diagnosis of mast cell—associated disorders 579 Young Hwan Park and Jonathan J. Lyons Introduction Physiologic roles of mast cells Evolution of mast cells Host defense Wound healing Toxin clearance Mast cell activation and mediator release IgE-FceRI signaling Mas-related G protein—coupled receptor-X2 SCF-КІТ (CD117) signaling IL-33—ST2 signaling IL-6—IL-6R/GP130 signaling Mast cell mediators Defining mast cell—associated disorders Clonal disorders of mast cells Nonclonal disorders associated with mast cell activation Genetic disorders involving mast cells Hereditary alpha-tryptasemia PLCG2-associated antibody deficiency and immune dysrégulation Adhesion G protein-coupled receptor E2 gain-of-function Clinical testing modalities Testing of mast cell mediators in blood and urine Tryptase genotyping КГГp.D816V variant detection by allele-specific and ddPCR Next-generation sequencing panels Bone marrow and tissue biopsy Clinical evaluation for mast cell—associated disorders Evaluation of patients with suspected mast cell—associated disorders Conclusion 580 581 582 583 583 584 584 584 585 585 586 586 587 589 589 593 596 596 598 599 600 600 605 607 607 608 608 608
612
xxii Contents Acknowledgments Funding References 21. The evaluation of a patient with urticaria and angioedema 614 614 614 627 Omar Elsayed-Ali and Jennifer Shih Urticaria Clinical definition of urticaria and angioedema Classification of urticaria Differential diagnosis of urticaria History and physical examination of urticaria Workup of urticaria Recurrent angioedema in the absence of wheals Classification and differential diagnosis of recurrent angioedema in the absence of wheals History and physical examination of recurrent angioedema in the absence of wheals Workup of recurrent angioedema in the absence of wheals Assessing disease activity/control Discussion References 22. Evaluation of a patient with anaphylaxis 628 628 628 629 629 630 632 632 632 634 635 636 636 639 Sehrish Viqar and Panida Sriaroon Introduction History taking Differential diagnosis Mechanisms of anaphylaxis Causes of anaphylaxis Foods Drugs Perioperative medications Latex Radiocontrast media Hymenoptera sting Exercise-induced anaphylaxis Idiopathic anaphylaxis Mast cell activation syndromes and mastocytosis Workup Laboratory assay Skin testing Graded challenge Conclusions References 640 541 644 645 647 647 649 650 651 651 652 653 654 655 657 657 659 660 θβΟ rry
Contents xxiii 23. Evaluating patients with eosinophilia and eosinophilic disorders 665 Heather Stern, D.O. and Cisoo Ghaffari, M.D. Introduction Eosinophil biology What is eosinophilia? Severity classification of eosinophilia Mechanisms of eosinophilia Target organs Causes of eosinophilia Secondary eosinophilia Allergic and atopic diseases Drug-induced Infection-related Neoplastic/hematologic Immune Miscellaneous Primary eosinophilia Hyperéosinophilie syndrome Organ-specific eosinophilic disorders Eosinophilic skin disease Eosinophilic lung disease Eosinophilic gastrointestinal disease Eosinophilic cystitis Approach to the patient with eosinophilia Summary References 24. Unproven and controversial tests and treatments in allergy and immunology 666 667 668 668 669 669 669 670 670 670 672 673 674 675 675 675 678 679 680 680 681 681 684 684 687 Suqing Zhou, Haijing Wu, Christopher Chang and Qianjin Lu Introduction Unconventional diagnostic methods Leukocytotoxic test Provocation—neutralization tests Electrodermal testing Applied kinesiology testing Serum IgG or lgG4 testing Unproven treatment methods Rotary diversified diet Nambudripad s allergy elimination technique Spiritual healing Concluding remarks References 688 689 689 690 691 692 693 694 695 695 696 700 700
xxiv Contents Section C Evaluation of immune function 25. Newborn screening for severe combined immunodeficiency and related issues 705 Amandeep Sandhu and Jennifer Heimall Introduction 706 Newborn screening for severe combined immunodeficiency and other immunodeficiencies 707 Severe combined immunodeficiency diagnosis 712 Nonsevere combined immunodeficiency lymphopenia 715 Clinicalevaluation 716 Laboratory evaluation 718 Genetic testing 718 Management 719 Treatment 721 Discussion/conclusion 722 Acknowledgment 722 References 723 26. Testing the innate immune system 725 Jacqueline D. Squire and Jennifer W. Leiding Background Testing techniques Immunoassays Flow cytometry Testing components of the innate immune system Polymorphonuclear leukocytes (neutrophils) Natural killer cells Complement system Interferon-gamma and interleukin-12/23 pathway Toll-like receptor and NF-кВ pathway Immune dysregulatory disorders Conclusions References 27. Testing the adaptive immune system 72 6 726 726 72 / 72л 728 724 729 730 732 733 734 734 737 Jacqueline D. Squire and Jennifer W. Leiding Background Testing components of the adaptive immune system Immunoglobulin levels Vaccine titers and isohemagglutinins Lymphocyte subsets Lymphocyte function 738 738 739 740 741 742
Contents T-cell receptor excision circle Discussion and conclusion References 28. Infections in primary immunodeficiency xxv 743 744 744 747 Ahnika Kline and Christa Zerbe Immunodeficiencies affecting cellular and humoral immunity 748 Introduction 748 Infections in severe combined immune deficiency 748 Combined immune deficiencies less profound than severe combined immune deficiency 752 Combined immunodeficiencies with syndromic features 756 Wiskott-Aldrich syndrome and related deficiencies 756 DNA repair defects with syndromic features 757 Thymic defects with additional congenital anomalies 758 Immune-osseous dysplasias 758 Hyper-IGE syndromes 759 Dyskeratosis congenita 759 Defects of vitamin B12 and folate metabolism 760 Anhidrotic ectodermodysplasia with immunodeficiency 760 Calcium channel defects 760 Other defects 761 Predominantly antibody deficiencies 761 Introduction 761 Diseases of immune dysrégulation 764 Introduction 764 Congenital defects of phagocyte number or function 767 Introduction 767 Defects in intrinsic and innate immunity 768 Introduction 768 Autoinflammatory disorders 773 Complement deficiencies 773 Introduction 773 Phenocopies and therapies 775 Conclusion 776 Acknowledgments 776 References 777 29. Periodic fever syndromes and autoinflammatory diseases 791 Angel A. Herrera Guerra and Victoria R. Dimitriades Introduction 792
xxvi Contents Familial Mediterranean fever Background Epidemiology Pathophysiology Clinical manifestations Laboratory features Diagnosis Treatment Prognosis Mevalonate kinase deficiency i Background Epidemiology Pathophysiology Clinical manifestations Laboratory features Diagnosis Treatment Prognosis Tumor necrosis factor receptor-associated periodic syndrome Background Epidemiology Pathophysiology Clinical manifestations Laboratory features Diagnosis Treatment Prognosis Cryopyrin associated autoinflammatory syndrome Background Epidemiology Pathophysiology Clinical manifestations Laboratory features Diagnosis Treatment Prognosis Periodic fever with adenitis, pharyngitis, and aphthous stomatitis Background Epidemiology Pathophysiology Clinical manifestations Laboratory features Diagnosis Treatment Prognosis Other autoinflammatory conditions Conclusion References 7’* 793 793 793 793 793 799 7 9 7 ? 7 VO7 } 7՝7/ 7s՜7 7 /C 7 797 1 70 /l ՝; 7t։ ’ 77 777 800 800 800 800 801 80I 800 800. 800 800 802 803 804 804 805 805 805 805 806 806 806 807 807 808 808 810 01л
Contents xxvii 30. Primary immune regulatory disorders 829 Maria Chitty-Lopez and Jolan E. Walter Background ALPS/ALPS-like disorders 1PEX and IPEX-related disorders CVID, CVID-like, and profound/late-onset combined immune deficiency disorders immune phenotype and genetic testing inPIRD Hyperinflammatory disorders and immunedysrégulation Discussion and conclusion References 31. The history, diagnosis, and pathophysiology of human immunodeficiency virus and acquired immunodeficiency syndrome 830 833 835 836 837 838 840 840 845 Kelly Valentini, Eric McGrath, Divya Seth and Elizabeth Secord Introduction 846 Human immunodeficiency virus and acquired immunodeficiency syndrome 846 Background and history 846 Pathophysiology and immune dysfunction 849 Atopy and human immunodeficiency virus 851 Diagnosis 852 Retroviral conversion syndrome 853 Diagnosis in asymptomatic persons and treatment as prevention 853 Human immunodeficiency virus testing 854 Human immunodeficiency virus testing in infants and children 854 Human immunodeficiency virus testing in breastfed infants 856 Missed opportunities and postexposure prophylaxis 856 Diagnosis of acquired immunodeficiency syndrome 856 Conclusion 857 References 857 32. The evaluation and treatment of autoimmune diseases 863 Kristina Wiers-Shamir, Jessica Simpson and Christopher Chang Introduction The history of present illness and physical examination in the evaluation of the rheumatologic patient Laboratory testing for autoimmune diseases What to consider when using a test Specific antibodies Antinuclear antibodies Antidouble-stranded DNA
antibodies Extractable nuclear antigens 864 864 865 865 866 866 868 868
xxviii 33. Contents Inflammatorymarkers Human leukocyte antigen associations in autoimmune diseases Imaging in autoimmune diseases Treatment of autoimmune diseases Disease-modifying antirheumatic drugs Corticosteroids Cytotoxic agents T cell targets Antiinflammatory agents Monoclonal antibodies Conclusions References 871 875 875 876 876 878 878 879 879 880 881 881 Neurologic autoimmune diseases 887 Yhojan Rodríguez, Lucas Restrepo, Christopher Chang and Juan-Manuel Anaya Introduction Multiple sclerosis Epidemiology Environmental factors Genetic factors Immunopathology Clinical features Diagnosis Treatment Neuromyelitis optica Epidemiology Genetic factors Environmental factors Immunopathology Clinical features Diagnosis Treatment Guillain—Barré syndrome Epidemiology Genetic factors Environmental factors Immunopathology Clinical features and diagnosis Treatment Chronic inflammatory demyelinating polyneuropathy Epidemiology Genetic factors Environmental factors Immunopathology Clinical features and diagnosis 888 886 886 886 890 89í; 896 895 896՛ 898 898 898 898 899 899 90Q 903 905 905 905 906 907 91 912 91 3 շ ց13 g^3 ց13 ց13 924
Contents Treatment Myasthenia gravis Epidemiology Genetic and environmental factors Immunopathology Clinical features and diagnosis Treatment Autoimmune encephalitis Epidemiology Genetic factors Environmental factors Immunopathology Clinical features Diagnosis Treatment Paraneoplastic neurological disorder Epidemiology Immunopathology Clinical features Treatment Summary References xxix 925 925 925 926 926 929 930 934 934 934 935 935 936 938 940 941 941 942 943 945 945 945 Volume 2 Section D Treatment of allergic diseases 34. Immunotherapy to environmentalallergens 979 Kristine Vanijcharoenkarn and Merin Kuruviila Background Patient selection Formulation of allergen immunotherapy extract Injection schedules Duration of immunotherapy Monitoring of treatment Reactions to allergen immunotherapy Local reactions Systemic reactions Pretreatment Subcutaneous immunotherapy versus sublingual immunotherapy Clinical efficacy Asthma 980 980 982 985 985 988 989 989 989 990 990 990 990
xxx 35. Contents Rhinoconjunctivitis Atopic dermatitis Efficacy of fungal extracts Efficacy of multiallergen immunotherapy Other administration routes New technologies Conclusion References 99 1 992 992 3 998 999 999 1999 Drug desensitization 1 oos Lourdes Ramirez, Faina Shenderov and Christopher Chang Introduction 1 θθ8 Mechanisms of drug hypersensitivity 10OE Type I hypersensitivity reactions: IgE mediated and поп-IgE mediated 100՜ Type II hypersensitivity reactions 1000 Type III hypersensitivity reactions 1000 Type IV hypersensitivity reactions 1004 Drug desensitization 1000 Mechanisms of drug desensitization 10ОО Indications 1010 Choosing desensitization protocols 1010 Premedication 101 Route and dosing 10І2 Desensitization protocols 1 01 2 Desensitization to vaccines 101 2 Desensitization to antibiotics 101 3 Desensitization to nonsteroidal anti-inflammatory drugs 101 0 Desensitization to monoclonal and chemotherapeutic agents 1022 Optimization of the desensitization procedure—pharmacy considerations 1021’ Conclusion 10 54 References 10 55 36. Oral, sublingual, and dermatologic immunotherapy for food allergy юз9 Mary Grace Baker and Julie Wang Introduction Oral immunotherapy Background/mechanism Studies In combination with other therapies: allergen oral immunotherapy + omalizumab orprobiotics Pros/cons How to incorporate oral immunotherapy intoclinical practice Future directions Epicutaneous immunotherapy 1040 1040 1040 Ю41 1058 1060 1061 Ю61 1061
Contents 1061 1062 1062 1064 1065 1065 1065 1065 1066 1069 1069 1069 1070 Background Mechanism Studies Pros/cons Future directions Sublingual immunotherapy Background Mechanism Studies Pros/cons Future directions Summary References 37. Conventional medications for the treatment of allergic rhinitis and conjunctivitis xxxi 1077 Elizabeth J. Feuille, Wanda Phipatanakul and Perdita Permaul Introduction Medications used for allergic rhinitis and allergic conjunctivitis Overview Nasal saline Antihistamines Glucocorticoids Mast cell-stabilizing agents Anticholinergics Leukotriene receptor antagonists Decongestants Future directions/conclusion Disclosure statement References 38. New biologies in allergy 1078 1079 1079 1090 1090 1095 1097 1099 1099 1100 1101 1103 1103 1111 Heather K. Lehman and Colleen Μ. Sabella Introduction Currently available biologies for allergic diseases Anti-lgE monoclonal antibodies Anti-IL-5 monoclonal antibodies Biologies currently in development Anti-IL-13 monoclonal antibody Anti-thymic stromal lymphopoietin monoclonal antibody CRTH2 antagonists Anti-IL-31 monoclonal antibody Anti-IL-33 monoclonal antibody Non-Th2 biologies in atopic disease Anti-IL-17 monoclonal antibodies 1112 1112 1112 1119 1127 1127 1129 1130 1131 1131 1132 1132
xxxii Contents Anti-IL-22 monoclonal antibody Anti-kallikrein monoclonal antibody Additional considerations when utilizing biological therapies Conclusion References 39. Action plans and quality of life evaluations Ί Ί 33 1133 1134 1135 1 135 1147 Pavadee Poowuttikul and Divya Seth Abbreviations Introduction Objectives of asthma action plans Structure of asthma action plans Asthma action plans and asthma outcome Asthma action plans and quality of life of asthma patients and parents 11 Asthma action plans and adherence to medications Barriers and facilitators of using asthma action plans Quality of life measurement of asthma patients and caregivers Tools to measure quality of life for adults with asthma Tools to measure quality of life for children with asthma and their caregivers Food allergy action plans Quality of life tools for food allergy Conclusion References 40. Treatment of atopic dermatitis 1 i ■θ 1149 11 3) 113 11 3 ՛ 11 3 : 11 ՝ / 1 i (Հ. 1 I 62 11 i՝ 2 I1 6 і I 17 11 / ■ 118 2 11 Richika Makol and Peck Y. Ong Introduction Diagnosis and assessment of atopic dermatitis severity Atopic dermatitis triggers Current atopic dermatitis therapy Routine skincare Topical corticosteroids Wet-wrap therapy Topical calcineurin inhibitors Topical phosphodiesterase 4 inhibitor Topical Janus kinase inhibitor Systemic therapy Medications for itch and infections in atopic dermatitis Summary and new treatments on the horizon References Further reading 1191 1192 1194 11 96 1196 1197 11 98 1200 1201 1201 1 շցշ 1203 1204 ļ 2Q5 1211
Contents 41. Recognition and treatment of anaphylaxis xxxiii 1213 Sehrish Viqar and Panida Sriaroon Introduction Recognition of anaphylaxis Definition of anaphylaxis Grading system of anaphylaxis Management of anaphylaxis Epinephrine Acute management following epinephrine administration Other medications Length of observation Fatal anaphylaxis Biphasic reactions Epinephrine autoinjector Prevention of anaphylaxis Education and trigger avoidance Anaphylaxis emergency action plan Outpatient management of anaphylaxis Underuse of epinephrine for the treatment of anaphylaxis Conclusion References 42. Venom allergy evaluation, diagnosis, and treatment 1214 1215 1215 1217 1217 1217 1220 1222 1223 1225 1225 1226 1228 1228 1229 1229 1231 1232 1233 1237 Amy Dowden Epidemiology Etiology Reactions Diagnosis Treatment Prevention Risk factors Biting insect allergy Conclusions References 43. Treatment of itch in atopic dermatitis 1238 1238 1242 1244 1247 1252 1252 1253 1253 1254 1259 Zoe Morgan Lipman, Rachel Shireen Golpanian and Gil Yosipovitch Introduction Pathophysiology of itch in atopicdermatitis Current treatment options for the atopic itch Topical treatments 1260 1260 1262 1262
xxxiv Contents Systemic treatments Emerging treatment options for atopic itch Topical treatments Systemic treatments Conclusion Conflicts of interest References 12bb 1272 1272 1272 1273 12 72 1274 44. Treatment of eosinophilic and hyperéosinophilie disorders Aparna Daley and Gisoo Chaffari General principles of management Key definitions and concepts Eosinopenia Severity of hypereosinophilia Excluding secondary causes Deciding the focus of treatment—the underlying condition, eosinophilia, or both? Risk assessment Deciding when to treat Hypereosinophilia of undetermined significance (asymptomatic hypereosinophilia) General management of hyperéosinophilie syndrome, complications of treatment, and acute life-threatening presentations Treatment approach to myeloproliferative variants Treatment approach to lymphocytic variants Treatment approach to FGFR1-, JAK2-, and FLT3-rearranged neoplasms Treatment approach to idiopathic HES Medications Systemic Glucocorticoids Hydroxyurea Interferon-a Imatinib mesylate Biologic agents Alemtuzumab Mepolizumab Reslizumab Omalizumab Dupilumab Tezepelumab Transplantation Biologic drugs and other medications with potential for future use 1283 1 28 1 128 4 1 2 В4 128 : 1 288 1 28 ’ 1 282 128 1 128 1 28 129 ! 1291 1292 1293 1293 1295 1296 1296 1298 1298 1299 1299 1300 1300 1300 1300 ļ 302
Contents Benralizumab Anti-Siglec-8 Dexpramipexole Anti-EMR1 Tyrosine kinase inhibitors Ruxolitinib and tofacitinib Therapies that are not efficacious in the management of hyperéosinophilie syndrome Supportive care and surgery Conclusion References Further reading 45. Treatment of urticaria and angioedema xxxv 1302 1303 1303 1303 1303 1303 1304 1304 1305 1305 1308 1309 lennifer Xu and Jennifer Shih Introduction Urticaria Definition of urticaria Treatment of urticaria Angioedema Mast cell mediator-induced angioedema therapy Bradykinin-induced angioedema Summary References 46. Integrative medicine in allergy and immunology 1310 1310 1310 1310 1315 1315 1315 1322 1323 1325 Lidan Linda Zhong, Wai Ching Lam, Hei Lam Helena Cheung and Aiping Lyu Philosophy of integrative medicine in allergy and immunology 1326 Approaches of integrative medicine in allergy and immunology 1327 Evaluation of integrative medicine in allergy and immunology 1328 Allergic rhinitis 1328 Definition in Chinese medicine and integrative medicine 1328 Pathophysiology 1329 Integrative therapy 1330 Preventive approach in Chinese medicine and integrative medicine 1331 Recommendations according to the grade of current practice evidence 1332 Systemic lupus erythematosus 1332 Definition 1332 Pathophysiology 1333 Integrative therapy 1336
xxxvi Contents Preventive approach Level of evidence andrecommendations Rheumatoid arthritis Definition in Chinese medicine andintegrative medicine Pathophysiology Integrative therapy Preventive approach in Chinese medicine and integrative medicine Recommendations according to the grade of current practice evidence Inflammatory bowel disease Definition Pathophysiology Integrative therapy Preventive approach Level of evidence and recommendations Overall summary References 1338 1338 1338 1340 134 1 13+2 I343 1344 1333 1344 1 346 1347 1348 1348 1350 Section E Treatment of immunological disorders 47. Treatment of primary immunodeficiencies and inborn errors of immunity 1363 Usa J. Kobrynski Introduction Nutrition Treatment of antibody deficiencies Immunoglobulin replacement Prophylaxis Complications of antibody deficiencies Treatment of combined immune deficiencies Precautions Prophylaxis Autoimmunity associated with primary immune deficiencies Treatment of phagocytic disorders Prophylaxis Other considerations Treatment of asplenia or hyposplenia Complement deficiencies Vaccination in PIDD Vaccination in В cell defects Vaccination in combined immune deficiency Vaccination in innate immune deficiency 136+ 1364 1365 1365 1370 1372 1374 1374 1375 1377 13 79 1379 1382 1383 1384 1385 1386 1389 1390
Contents Conclusion References 48. Management of autoinflammatory syndromes and periodic fevers xxxvii 1390 1390 1399 Claire J. Peet and Helen J. Lachmann Introduction Management of autoinflammatory diseases by condition Familial Mediterranean fever Cryopyrin-associated periodic syndrome Tumor necrosis factor receptor-associated periodic syndrome Mevalonate kinase deficiency Pharmacological aspects of management Putative pathophysiological mechanisms in autoinflammatory diseases Colchicine Anti-interleukin-1 agents Agents targeting other inflammatory pathways Nonpharmacological aspects of management Setting of care Monitoring in autoinflammatory syndromes Vaccinations in patients with systemic autoinflammatory diseases Family planning and systemic autoinflammatory conditions Conclusions and future directions References 49. Immunomodulatory pharmaceuticals for the treatment of immune dysfunction 1400 1401 1401 1405 1407 1408 1410 1410 1410 1411 1415 1416 1416 141 6 1419 1420 1421 1421 1431 Maria Chitty-Lopez and Jolan E. Walter Background Immune modulation in primary immune deficiency disorder Immune modulators safety profile Infusion-related reactions Infections and organ damage Cytopenias Hypogammaglobulinemia Immunomodulators and immunodeficiencies: special considerations Rituximab and common variableimmunodeficiency Immunomodulation inhemophagocyticlymphohistiocytosis Immunomodulatory drugs and severe Coronavirus disease of 2019 1432 1432 1433 1433 1440 1440 1440 1440 1440 1441 1441
xxxviii Contents Discussion References 50. Management and prophylaxis of infections in primary immunodeficiency 1442 1442 1447 Renata Medina and Christa Zerbe Introduction Immunizations Antimicrobial prophylaxis Antibacterial prophylaxis Antiviral prophylaxis Antifungal prophylaxis Adjunctive therapies Bacterial infections Gram-positive infections Gram-negative infections Mycobacterial infections Viral infections Respiratory viruses Enteric viral infections Herpesviruses Human papillomavirus Poxviruses Polyoma viruses Fungal infections Candida Aspergillus Cryptococcus Endemic mycoses Pneumocystis j¡rovecii Toxoplasma Protozoal infections Treatment Conclusion Acknowledgment References 51. Bone marrow transplant for the patient with primary immune deficiency disorder 1448 1449 1451 1451 1453 1454 14^4 1453 14зЗ 1458 1459 145 146 145 ՛ 1482 1465 1465 148 r 14 1466 146 1468 1469 1 479 1470 1471 1471 1471 1471 1472 1479 Gary Kleiner, Siena Vadakal, Erini Nessim Kostandy, Nia Rush, Nevenda Velikova Rose, Nina Hein and lennifer Gebbia History and indications The early days 1480 1480
Contents XXXIX Indications for transplant 1483 Special considerations in bone marrow transplantation for primary immunodeficiency 1484 Transplant process 1485 Transplant complications 1489 Timeline to infections 1491 Preengraftment period 1491 Early postengraftment period 1492 Late postengraftment period 1493 Craft versus host disease 1493 Graft versus host disease severity 1494 Graft versus host disease prophylaxis 1494 Graft versus host disease treatment 1494 Chronic Graft versus host disease 1497 Long-term concerns in primary immune deficiency 1497 Conclusion 1498 References 1499 52. An immunologist s guide to solid-organ transplantation 1505 Maryanne Chrisant Introduction The journey of clinical transplantation Evaluation Listing Transplant Post-transplant Routine transplant maintenance therapy Rejection and treatment Tolerance and ABO-incompatible transplant References 53. The use of therapeutic apheresis in allergic and immunological diseases 1506 1507 1508 1511 1512 1513 1514 1520 1522 1523 1527 Rachel K. Horton, Daniel D. Summerfield and Jeffrey L. Winters Introduction Brief history of apheresis Role of apheresis in immunological disorders Definitions American Society for Apheresis guidelines Overview Indication categories American Society for Apheresis Grade Recommendations 1528 1528 1530 1531 1531 1531 1532 1533
xl Contents Therapeutic plasma exchange General overview Proposed mechanism of action of therapeutic plasma exchange Filtration versus centrifugation Plasma volume treated Vascular access Anticoagulation Replacement fluids Intraprocedural patient management Therapeutic plasma exchange nonselective reduction and recovery of plasma constituents Immunoabsorption General overview Vascular access Available columns Extracorporeal photopheresis General overview Proposed mechanism of extracorporeal photophereis Treatment schedule Vascular access Anticoagulation Determining response to therapy Adsorptive cytapheresis general overview Proposed mechanism Treatment schedule Vascular access Anticoagulation Conclusion References 54. Management and treatment of human immunodeficiency virus 1561 ’61 1 ’61 1561 1 ’”4 l. 65 1565 1556 I ’66 1570 1’70 1 з7 ì 157 1 1575 157 5 1576 157 7 1 577 157 5 1577 1570 1580 1 OOI: 1588 1580 1581 1581 1585 Eric McGrath, joudeh B. Freij, Kelly Valentini and Elizabeth Secord Introduction Rationale for treatment Principles of treatment Pharmacotherapy Introduction to the antiretroviral drug classes Infants and pregnancy Children Adolescents and adults Prevention Postexposure prophylaxis Preferred regimens for postexposure prophylaxis 1586 1586 1586 1587 1587 1589 1594 1595 1597 1597 1601
Contents Preexposure prophylaxis and human immunodeficiency virus prevention Antiretroviral adherence and support References 55. Gene therapy in the treatment of primary immune deficiency diseases xli 1601 1605 1606 1611 Saul O. Lugo Reyes and Armando Partida Gaytán Introduction A history of gene therapy The mechanism Viral vectors Nonviral vectors Applications Setbacks and pitfalls for gene therapy Overexpression Theoretical concerns Leukemic transformation Gene editing CRISPR in immune deficiencies Future perspectives and ethics of gene editing From healing to enhancing COVID-19 vaccines as gene therapies References 1612 1613 1615 1616 1617 1618 1622 1622 1623 1623 1623 1625 1625 1626 1627 1627 Section F Supplements Appendix A: Abbreviations Appendix B: Ordering allergen extracts for skin testing and immunotherapy Appendix C: Oral and parenteral steroid dosing chart Appendix D: Topical corticosteroid potency chart Appendix E: Nonirritating concentrations of drugs for purposes of skin testing Appendix F: Normal values of immune function tests Appendix G: Pneumococcal serotypes in vaccines and testing Appendix H: CD molecules and their function Appendix I: T-cell subsets and ontogeny Appendix J: Immunological check point inhibitors Appendix K: В-cell subsets and ontogeny Appendix L: Monoclonal antibodies and fusion proteins currently in use in allergy and immunology Index 1631 1636 1639 1640 1641 1644 1651 1654 1674 1676 1679 1680 1685
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Contents List of contributors Preface xliii li Volume 1 Section A Background 1. з Introduction Christopher Chang 2. The origin of allergy and immunology as a specialty The role of allergy and immunology in the world of medicine The allergy and immunology workforce in the United States Training of allergy and immunology specialists Professional organizations Allergy and immunology journals Summary References 4 5 6 8 9 9 16 16 A brief history of allergy and immunology 17 Kranthi Nomula, Kyndra Liburd, Xiang Ge, JinLyu Sun and Christopher Chang Introduction An early history of immunology The age of vaccines Discovery of cellular and humoral components of immunity Complement Allergic diseases and early descriptions and treatment of "hay fever" and food allergy Blood typing, transfusions, and plasma proteins Early studies on transplantation A modern history of allergy and immunology Molecular immunology and the biotechnology revolution 18 18 18 19 21 22 23 25 25 26
viii 3. Contents Immortal cells and the ability to produce monoclonal antibodies The 21st century—a brave new world Checkpoint inhibitors and the modern treatment of cancer COVI D-19 Conclusion References 28 28 39 39 40 41 Basic immunology 43 Christopher Chang Introduction Primary and secondary lymphoid organs Innate and adaptive immunity Characteristics and attributes of the human immune system Rapidity of response Diversity of response Specificity of the response Strength (amplification) of the response Regulation of the response Immunological concepts Autoimmunity and immune tolerance Protein phosphorylation The ability to recall—immunological memory Apoptosis and autophagy Immunosenescence Epigenetics Immune paradigms T helper cell paradigms Thl 7—Treg paradigm Stromal immunology Cellular immunity—cells of the immune system Granulocytes Mononuclear cells Lymphocytes Natural killer cells Monocytes and macrophages Ontogeny of immune cells and antibodies T cell—dependent and T cell—independent antigens Humoral immunity—immunoglobulins and other molecules Antigen recognition Cytokines Chemokines Growth factors Complement Computational immunology Summary and conclusions References 44 45 45 46 46 46 49 49 50 51 51 52 53 53 54 55 55 55 56 56 57 57 59 59 65 65 66 66 67 67 72 72 78 78 86 86 86
Contents 4. ix The allergy and immunology history and physical 89 Hanadys Ale, Marlen Rodriguez and Wilfredo Cosme-Blanco Introduction The allergy and immunology chief complaint and its relevance The main elements of history taking The history of the present illness The past medical history Family history Environmental history Social history Review of systems Essentials of the clinical history and physical exam approach in a patient with ocularcomplaints Clinical history Physical exam Essentials of the clinical history and physical exam approach in a patient with upperrespiratory complaints Clinical history Physical examination Essentials of the clinical history and physical exam approach in a patient with lowerrespiratory complaints Clinical history Physical exam Essentials of the clinical history and physical exam approach in a patient with skin complaints Clinical history Physical exam Essentials of the clinical history and physical exam approach in a patient with gastrointestinalcomplaints Clinical history Physical exam Essentials of the clinical history and physical exam approach in a patient with recurrent infections Clinical history Physical exam Conclusions Acknowledgments References 5. 90 91 91 92 92 92 92 93 93 94 94 96 98 98 99 101 101 101 102 102 104 105 105 106 109 109 110 111 111 117 Basic genetics and epigenetics for the immunologist and allergist 119 Meng Chen, Stéphanie Lejeune, Xiaoying Zhou and Kari Nadeau Introduction The human genome and the genetic code Epigenetic modifications 120 120 121
x Contents 121 125 127 127 127 127 131 132 132 133 134 134 135 135 135 136 136 138 138 138 138 138 139 139 Types of genetic studies Gene—environment interactions Ongoing research and future areas of research Diagnostic tools Genetic and epigenetic basis of allergic disease Atopic dermatitis Asthma Allergic rhinitis Food allergy Drug allergy Genetic and epigenetic basis of immunologic diseases Primary immunodeficiency Hereditary angioedema Applications of genetics and epigenetics Understanding endotypes Predicting who will be affected Predicting response to treatment Challenges and limitations of genetic testing Interpretation Cost Accessibility Ethical considerations Conclusions References 6. Laboratory skills for immunologists: utility and limitations with emphasis on allergy research 145 Rasika Patkar, Christine Y.Y Wai, Nicki Y.H. Leung, Iris Nkamba, Shang An Shu and Patrick S.C. Leung Abbreviations Introduction Section 1: Western blotting Overview Preparation and procedure Data analysis Applications Section 2: Enzyme-linked immunosorbent assay Overview Preparation and procedure Data analysis Applications Section 3: Flow cytometry Overview Preparation and procedure Data analysis Applications 146 148 150 150 150 152 152 154 154 154 157 157 158 158 158 161 163
Contents Section 4: Basophil activation test Overview Preparation and procedure Dataanalysis Applications Section 5: Microarray Overview Preparation and procedure Dataanalysis Applications Section 6: Animal models Overview Preparation and procedure Dataanalysis Applications Conclusion Future directions and challenges Western blotting ELISA Flow cytometry BAT Microarray Animal models References 7. xi 165 165 165 167 168 169 169 169 170 171 172 172 172 175 175 176 1 76 176 177 177 177 177 179 179 Developments and emerging technologies in allergic and immunologic disease management 187 Nicki Y.H. Leung, Christine Y.Y Wai, Tihong Shao, Ka Hou Chu and Patrick S.C. Leung Abbreviations Introduction Section 1: Diagnosis of allergic diseases Component-resolved diagnosis Molecular microarray for the diagnosis of allergic diseases Basophil activation test Section 2: Latest development of allergen-specific immunotherapy Novel routes of AIT Novel adjuvants of AIT Virus-like particles for AIT DNA vaccines for AIT Section 3: Omics in the management of allergic diseases Multiomics approach on severefood-associated respiratory allergy Multiomics approach on reaction severity in peanut allergy Section 4: Artificial intelligence in the management of allergic diseases Al in asthma research Al in food allergy research 187 189 190 1 90 192 193 193 194 1 97 198 198 199 203 203 204 204 205
xii Contents Al in atopic dermatitis research 206 Section 5: Omics and Al in the management of immunodeficiency diseases and autoimmune diseases 206 Concluding remarks—implications of novel technologies in allergy and immunology research and care 210 References 211 8. Genomics technologies and bioinformatics in allergy and immunology 221 Satishkumar Ranganathan Ganakammal, Ke Huang, Magdalena Walkiewicz and Sandhya Xirasagar Introduction Types of genetic diseases and variants High throughput methods Chromosomal microarray Sanger sequencing Next-generation sequencing Application of high-throughput sequencing Research variants Downstream exploratory analysis Data science and big data analytics Importance of scalable infrastructure and data standardization Conclusion Acknowledgment References 222 223 224 224 225 225 232 240 240 245 248 251 251 251 Section В Diagnosis of allergic diseases 9. Epicutaneous and intradermal skin testing 263 Divya Seth and Pavadee Poowuttikul Introduction Mechanism of skin response Indications of skin testing Allergic rhinitis/conjunctivitis Food allergy Drug allergy Insect sting allergy Latex allergy Allergic broncho-pulmonary aspergillosis Factors affecting skin testing Medications Allergen extracts Skin test sites 264 265 266 266 266 266 266 2θ7 267 267 267 272 771
Contents xiii Physiological characteristics 273 Number of skin test 275 Selection of allergens 275 Cross-reactivity 277 Methods of skin testing 279 Prick-puncture tests 280 Intradermal tests 287 False-positive and false-negative skin test results 291 The use of skin tests for nondiagnostic purposes 292 Standardization of allergens 292 Immunotherapy studies 293 Pharmacologic studies 293 Epidemiological studies 293 Correlation with other diagnostic tests for diagnosing allergic diseases 293 In vitro tests/serology 293 In vivo tests/allergen challenges 294 Conclusion 295 References 295 10. Skin prick testing for foods 303 Roxanne C. Oriel and Scott H. Sicherer Introduction Approach to food allergy diagnosis Pathophysiology of immunoglobulin E-mediated food allergy and rationale for skin prick testing to foods Skin prick testing procedure Skin prick test measurement Skin prick test interpretation Skin prick testing variability Device type variability Quantity of antigen Limitations of skin prick testing Safety Conclusions References 11. Jn vitro methods to assess allergy 304 304 308 311 314 314 316 316 317 317 318 318 318 323 Nicole Akar-Chibril and Christopher Chang Introduction Total IgE levels Allergen-specific IgE In vitro testing for environmental allergens In vitro testing for food allergens In vitro testing for venom allergy In vitro testing for latex 324 325 326 334 334 335 336
xiv Contents In vitro testing for drugs In vitro testing for occupational protein allergens Tryptase In vitro tests primarily used in research-basophil tests and eosinophil cationic protein Unvalidated in vitro tests Conclusion References 12. 337 338 338 339 340 340 Oral food challenges 345 Christopher Chang, Nicole Akar-Ghibril and Kathleen Hathaway Introduction Epidemiology of food allergies The heterogeneity of adverse food reactions Oral food challenges Selection of the patient for an oral foodchallenge Setting up the site for conducting oral foodchallenges Preparing the patient for an oral foodchallenge Shared decision making Informed consent Oral food challenge procedure Before the challenge The day of the challenge Terminating the challenge Documentation of the challenge results Postchallenge management A "positive" challenge A "negative" challenge Discharge instructions Special populations Oral food challenges in the infant Oral food challenges in the adult patient Specific foods Baked food challenges Variations on oral food challenges Food-dependent exercise-induced anaphylaxis Oral food challenges for food protein—inducedenterocolitis syndrome Frequently asked questions Conclusions References 13. Physical urticarias: diagnosis and testing 346 346 346 349 349 351 355 355 356 358 358 361 361 373 373 373 373 374 374 374 375 375 375 378 378 381 383 384 384 389 Karen Μ. Anstey and Iris Μ. Otani Introduction General recommendations for provocationtesting 39Q 390
Contents Symptomatic dermographism Characteristics Provocation testing Delayed pressure—induced urticaria Characteristics Provocation Testing Cold-contact urticaria Characteristics Provocation testing Heat-contact urticaria Characteristics Provocation testing Solar urticaria Characteristics Testing Vibratory urticaria Characteristics Provocation testing Conclusion Conflict of interest References 14. Techniques to evaluate asthma XV 391 391 391 392 392 393 393 393 394 395 395 395 396 396 396 396 396 397 397 397 397 401 Gerald B. Lee and Katherine L. Tison Introduction Subjective evaluations Physiologic evaluations Pulmonary function testing Peak flow monitoring Impulse oscillometry Bronchoprovocation with direct and indirect challenge testing Mechanisticevaluations Total and allergen-specific immunoglobulin E Peripheral blood eosinophils Sputum eosinophils Fractional exhaled nitric oxide Periostin T2-low biomarkers Conclusion References 15. Drug allergy testing 402 403 404 404 409 409 409 412 413 413 413 413 414 414 416 416 419 Min j. Lee and Jeffrey Μ. Chambliss Introduction Types of adverse drug reactions 420 420
xvi 16. Contents Evaluation of immediate drug reactions Skin testing other drug classes Laboratory studies and in vitro testing Direct oral challenge Evaluation of delayed hypersensitivity reactions Discussion/Conclusion References 421 423 431 432 433 436 436 Diagnosis and management of rhinitis and rhinosinusitis 441 Auddie Μ. Sweis and David W. Kennedy 442 442 443 443 444 444 445 450 452 454 457 459 461 462 Introduction Definition Epidemiology Etiology and pathogenesis Clinical presentation Patient demographics/signs and symptoms Diagnostics Typical computed tomography radiographic features Medical management and outcomes Topical therapy Systemic therapy Surgical management and outcomes Conclusion References 17. Approach to the rash from an allergy and immunology perspective 471 Sonam Sani and Luz Fonacier Introduction Eczematous rashes Atopic dermatitis Introduction Pathophysiology Clinical features Diagnosis Contact dermatitis Introduction Pathophysiology Clinical features Diagnosis Seborrheic dermatitis Introduction Pathophysiology Clinical features 472 473 473 473 473 474 474 474 474 475 475 476 476 476 477 477
Contents Diagnosis Nummular eczema Introduction Pathophysiology Clinical features Diagnosis Lichen simplex chronicus/prurigo nodularis Introduction Pathophysiology Clinical features Diagnosis Mycosis fungoides Introduction Pathophysiology Clinical features Diagnosis Urticarial rashes Acute urticaria Chronic urticaria Introduction Pathophysiology Clinical features Diagnosis Physical urticaria Dermatographism Cholinergic Cold induced Aquagenic Solar Vibratory angioedema/urticaria Delayed pressure Urticarial vasculitis Introduction Pathophysiology Clinical features Diagnosis Cutaneous mastocytosis Introduction Pathophysiology Clinical features Diagnosis Papulosquamous disorders Psoriasis Pityriasis rosea Lichen planus Drug eruptions Exanthematous/maculopapular drug eruption xvii 478 478 478 478 478 478 479 479 479 479 480 480 480 480 480 481 481 481 484 484 484 485 485 486 486 486 487 487 487 488 488 488 488 489 489 490 491 491 491 491 492 492 492 495 496 497 497
xviii Contents Stevens—Johnson syndrome/toxic epidermal necrolysis Introduction Pathophysiology Clinical features Diagnosis Drug reaction with eosinophilia and systemic symptoms Introduction Pathophysiology Clinical features Diagnosis Acute generalized exanthematous pustulosis Introduction Pathophysiology Clinical features Diagnosis Fixed drug eruption Introduction Pathophysiology Clinical features Diagnosis Bullous disorders Bullous pemphigoid Pemphigus vulgaris Introduction Pathophysiology Clinical features Diagnosis Conclusion References 498 498 498 498 499 500 500 500 500 501 501 501 502 502 502 502 502 503 503 503 503 503 505 505 505 505 505 505 506 18. Patch testing and the evaluation of contact allergy 511 Stephanie L Mawhirt and Luz Fonacier Abbreviations Introduction Pathophysiology Clinical history Physical examination Histologic findings Site-specific considerations Face and neck Eyehd L|p Hand Foot Axillary Ano-genital region 512 513 514 51 5 51g 520 520 520 520 521 ^2 -1 521 ^21 շշշ
Contents Other important considerations Allergic contact dermatitis in children Atopic dermatitis Systemic contact dermatitis Allergens causing allergic contact dermatitis Nickel sulfate Fragrances Balsam of Peru Preservatives Methylchloroisothiazolinone/methylisothiazolinone and methylisothiazolinone Paraben p-Phenylenediamine Lanolin Cocamidopropyl betaine Rubber Medications Corticosteroids Patch testing and patch test allergens Patch testing technique Patch test reading and interpretation False-positive and false-negative patch testing results Determining clinical relevance Repeat open application test and use test Management: allergen avoidance and treatment Conclusion References 19. Skin biopsies: their utility to allergists and immunologists xix 522 522 522 524 524 527 528 528 528 529 529 529 530 530 530 530 531 531 532 532 534 534 534 535 536 536 543 Maxwell A. Fung, Smita Awasthi, Samuel T. Hwang and Joyce S. Lee Introduction Biopsy types Direct immunofluorescence testing Eczematous reactions Atopic dermatitis (eczema) Contact dermatitis Dyshidrotic dermatitis (dyshidrosis, pompholyx) Id reaction (autoeczematization) Nummular dermatitis Seborrheic dermatitis Stasis dermatitis Xerotic (asteatotic) dermatitis Urticarial eruptions Urticaria Urticarial vasculitis Neutrophilic urticarial dermatosis 550 551 552 552 552 553 554 554 554 554 554 555 555 555 556 556
xx Contents Urticarial dermatitis Papular urticaria Other urticarial reactions Autoinflammatory syndromes ADAMI 7 deficiency Aicardi-Coutières syndrome API S3 and autoinflammatory psoriasis Autoimmunity and PLC^-associated antibody deficiency and immune dysrégulation Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia Behçet syndrome Blau syndrome CANDLE syndrome CARD! 4-mediated psoriasis Cryopyrin-associated periodic syndromes Deficiency of adenosine deaminase 2 Deficiency of interleukin-1 receptor antagonist Familial chilblain lupus Familial Mediterranean fever H syndrome Majeed syndrome NLRP1-associated disease NLRP12-associated autoinflammatory disease Pyogenic sterile arthritis, pyoderma gangrenosum, acne PLC'i2-associated antibody deficiency and immune dysrégulation Singleton—Merton syndrome Schnitzler syndrome Spondyloenchondrodysplasia with immune dysrégulation STING-associated vasculopathy with onset in infancy Synovitis, arthritis, pustulosis, hyperostosis, osteitis Tumor necrosis factor receptor—associated periodic syndrome Immunodeficiency syndromes Ataxia-telangiectasia Chediak—Higashi syndrome Chronic granulomatous disease (Bridges—Good syndrome, Quie syndrome) Combined immunodeficiency Common variable immunodeficiency DiGeorge syndrome (22q11.2 deletion) Griscelli syndrome Good syndrome Hemophagocytic lymphohistiocytosis Hereditary angioedema Hyper-lgE syndrome Immunodysregulation polyendocrinopathy enteropathy X-linked syndrome 556 557 557 557 558 558 558 558 558 559 559 559 559 560 560 560 560 561 561 561 561 561 561 562 562 562 562 562
563 563 563 563 563 564 564 564 564 565 555 565 565 565 566
Contents 20. xxi Leukocyte adhesion deficiency Netherton syndrome Nijmegen breakage syndrome Severe combined immunodeficiency Wiskott-Aldrich syndrome X-linked agammaglobulinemia (Bruton disease) Other inflammatory disorders of the skin Autoimmune diseases Granulomatous dermatitis Immunobullous disorders Morbilliform eruptions Acknowledgment References 566 566 566 566 567 567 567 567 568 568 569 569 569 Evaluation and diagnosis of mast cell—associated disorders 579 Young Hwan Park and Jonathan J. Lyons Introduction Physiologic roles of mast cells Evolution of mast cells Host defense Wound healing Toxin clearance Mast cell activation and mediator release IgE-FceRI signaling Mas-related G protein—coupled receptor-X2 SCF-КІТ (CD117) signaling IL-33—ST2 signaling IL-6—IL-6R/GP130 signaling Mast cell mediators Defining mast cell—associated disorders Clonal disorders of mast cells Nonclonal disorders associated with mast cell activation Genetic disorders involving mast cells Hereditary alpha-tryptasemia PLCG2-associated antibody deficiency and immune dysrégulation Adhesion G protein-coupled receptor E2 gain-of-function Clinical testing modalities Testing of mast cell mediators in blood and urine Tryptase genotyping КГГp.D816V variant detection by allele-specific and ddPCR Next-generation sequencing panels Bone marrow and tissue biopsy Clinical evaluation for mast cell—associated disorders Evaluation of patients with suspected mast cell—associated disorders Conclusion 580 581 582 583 583 584 584 584 585 585 586 586 587 589 589 593 596 596 598 599 600 600 605 607 607 608 608 608
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xxii Contents Acknowledgments Funding References 21. The evaluation of a patient with urticaria and angioedema 614 614 614 627 Omar Elsayed-Ali and Jennifer Shih Urticaria Clinical definition of urticaria and angioedema Classification of urticaria Differential diagnosis of urticaria History and physical examination of urticaria Workup of urticaria Recurrent angioedema in the absence of wheals Classification and differential diagnosis of recurrent angioedema in the absence of wheals History and physical examination of recurrent angioedema in the absence of wheals Workup of recurrent angioedema in the absence of wheals Assessing disease activity/control Discussion References 22. Evaluation of a patient with anaphylaxis 628 628 628 629 629 630 632 632 632 634 635 636 636 639 Sehrish Viqar and Panida Sriaroon Introduction History taking Differential diagnosis Mechanisms of anaphylaxis Causes of anaphylaxis Foods Drugs Perioperative medications Latex Radiocontrast media Hymenoptera sting Exercise-induced anaphylaxis Idiopathic anaphylaxis Mast cell activation syndromes and mastocytosis Workup Laboratory assay Skin testing Graded challenge Conclusions References 640 541 644 645 647 647 649 650 651 651 652 653 654 655 657 657 659 660 θβΟ rry
Contents xxiii 23. Evaluating patients with eosinophilia and eosinophilic disorders 665 Heather Stern, D.O. and Cisoo Ghaffari, M.D. Introduction Eosinophil biology What is eosinophilia? Severity classification of eosinophilia Mechanisms of eosinophilia Target organs Causes of eosinophilia "Secondary" eosinophilia Allergic and atopic diseases Drug-induced Infection-related Neoplastic/hematologic Immune Miscellaneous Primary eosinophilia Hyperéosinophilie syndrome Organ-specific eosinophilic disorders Eosinophilic skin disease Eosinophilic lung disease Eosinophilic gastrointestinal disease Eosinophilic cystitis Approach to the patient with eosinophilia Summary References 24. Unproven and controversial tests and treatments in allergy and immunology 666 667 668 668 669 669 669 670 670 670 672 673 674 675 675 675 678 679 680 680 681 681 684 684 687 Suqing Zhou, Haijing Wu, Christopher Chang and Qianjin Lu Introduction Unconventional diagnostic methods Leukocytotoxic test Provocation—neutralization tests Electrodermal testing Applied kinesiology testing Serum IgG or lgG4 testing Unproven treatment methods Rotary diversified diet Nambudripad's allergy elimination technique Spiritual healing Concluding remarks References 688 689 689 690 691 692 693 694 695 695 696 700 700
xxiv Contents Section C Evaluation of immune function 25. Newborn screening for severe combined immunodeficiency and related issues 705 Amandeep Sandhu and Jennifer Heimall Introduction 706 Newborn screening for severe combined immunodeficiency and other immunodeficiencies 707 Severe combined immunodeficiency diagnosis 712 Nonsevere combined immunodeficiency lymphopenia 715 Clinicalevaluation 716 Laboratory evaluation 718 Genetic testing 718 Management 719 Treatment 721 Discussion/conclusion 722 Acknowledgment 722 References 723 26. Testing the innate immune system 725 Jacqueline D. Squire and Jennifer W. Leiding Background Testing techniques Immunoassays Flow cytometry Testing components of the innate immune system Polymorphonuclear leukocytes (neutrophils) Natural killer cells Complement system Interferon-gamma and interleukin-12/23 pathway Toll-like receptor and NF-кВ pathway Immune dysregulatory disorders Conclusions References 27. Testing the adaptive immune system 72 6 726 726 72 / 72л 728 724 729 730 732 733 734 734 737 Jacqueline D. Squire and Jennifer W. Leiding Background Testing components of the adaptive immune system Immunoglobulin levels Vaccine titers and isohemagglutinins Lymphocyte subsets Lymphocyte function 738 738 739 740 741 742
Contents T-cell receptor excision circle Discussion and conclusion References 28. Infections in primary immunodeficiency xxv 743 744 744 747 Ahnika Kline and Christa Zerbe Immunodeficiencies affecting cellular and humoral immunity 748 Introduction 748 Infections in severe combined immune deficiency 748 Combined immune deficiencies less profound than severe combined immune deficiency 752 Combined immunodeficiencies with syndromic features 756 Wiskott-Aldrich syndrome and related deficiencies 756 DNA repair defects with syndromic features 757 Thymic defects with additional congenital anomalies 758 Immune-osseous dysplasias 758 Hyper-IGE syndromes 759 Dyskeratosis congenita 759 Defects of vitamin B12 and folate metabolism 760 Anhidrotic ectodermodysplasia with immunodeficiency 760 Calcium channel defects 760 Other defects 761 Predominantly antibody deficiencies 761 Introduction 761 Diseases of immune dysrégulation 764 Introduction 764 Congenital defects of phagocyte number or function 767 Introduction 767 Defects in intrinsic and innate immunity 768 Introduction 768 Autoinflammatory disorders 773 Complement deficiencies 773 Introduction 773 Phenocopies and therapies 775 Conclusion 776 Acknowledgments 776 References 777 29. Periodic fever syndromes and autoinflammatory diseases 791 Angel A. Herrera Guerra and Victoria R. Dimitriades Introduction 792
xxvi Contents Familial Mediterranean fever Background Epidemiology Pathophysiology Clinical manifestations Laboratory features Diagnosis Treatment Prognosis Mevalonate kinase deficiency i Background Epidemiology Pathophysiology Clinical manifestations Laboratory features Diagnosis Treatment Prognosis Tumor necrosis factor receptor-associated periodic syndrome Background Epidemiology Pathophysiology Clinical manifestations Laboratory features Diagnosis Treatment Prognosis Cryopyrin associated autoinflammatory syndrome Background Epidemiology Pathophysiology Clinical manifestations Laboratory features Diagnosis Treatment Prognosis Periodic fever with adenitis, pharyngitis, and aphthous stomatitis Background Epidemiology Pathophysiology Clinical manifestations Laboratory features Diagnosis Treatment Prognosis Other autoinflammatory conditions Conclusion References 7’* 793 793 793 793 793 799 7 '9 7 ?'7 VO7 ' } 7՝7/ 7s՜7 7 /C'7 797 1 70 /l ՝; 7t։ ’ 77 777 800 800 800 800 801 80I 800 800. 800 800 802 803 804 804 805 805 805 805 806 806 806 807 807 808 808 810 01л
Contents xxvii 30. Primary immune regulatory disorders 829 Maria Chitty-Lopez and Jolan E. Walter Background ALPS/ALPS-like disorders 1PEX and IPEX-related disorders CVID, CVID-like, and profound/late-onset combined immune deficiency disorders immune phenotype and genetic testing inPIRD Hyperinflammatory disorders and immunedysrégulation Discussion and conclusion References 31. The history, diagnosis, and pathophysiology of human immunodeficiency virus and acquired immunodeficiency syndrome 830 833 835 836 837 838 840 840 845 Kelly Valentini, Eric McGrath, Divya Seth and Elizabeth Secord Introduction 846 Human immunodeficiency virus and acquired immunodeficiency syndrome 846 Background and history 846 Pathophysiology and immune dysfunction 849 Atopy and human immunodeficiency virus 851 Diagnosis 852 Retroviral conversion syndrome 853 Diagnosis in asymptomatic persons and treatment as prevention 853 Human immunodeficiency virus testing 854 Human immunodeficiency virus testing in infants and children 854 Human immunodeficiency virus testing in breastfed infants 856 Missed opportunities and postexposure prophylaxis 856 Diagnosis of acquired immunodeficiency syndrome 856 Conclusion 857 References 857 32. The evaluation and treatment of autoimmune diseases 863 Kristina Wiers-Shamir, Jessica Simpson and Christopher Chang Introduction The history of present illness and physical examination in the evaluation of the rheumatologic patient Laboratory testing for autoimmune diseases What to consider when using a test Specific antibodies Antinuclear antibodies Antidouble-stranded DNA
antibodies Extractable nuclear antigens 864 864 865 865 866 866 868 868
xxviii 33. Contents Inflammatorymarkers Human leukocyte antigen associations in autoimmune diseases Imaging in autoimmune diseases Treatment of autoimmune diseases Disease-modifying antirheumatic drugs Corticosteroids Cytotoxic agents T cell targets Antiinflammatory agents Monoclonal antibodies Conclusions References 871 875 875 876 876 878 878 879 879 880 881 881 Neurologic autoimmune diseases 887 Yhojan Rodríguez, Lucas Restrepo, Christopher Chang and Juan-Manuel Anaya Introduction Multiple sclerosis Epidemiology Environmental factors Genetic factors Immunopathology Clinical features Diagnosis Treatment Neuromyelitis optica Epidemiology Genetic factors Environmental factors Immunopathology Clinical features Diagnosis Treatment Guillain—Barré syndrome Epidemiology Genetic factors Environmental factors Immunopathology Clinical features and diagnosis Treatment Chronic inflammatory demyelinating polyneuropathy Epidemiology Genetic factors Environmental factors Immunopathology Clinical features and diagnosis 888 886 886 886 890 89í; 896 895 896՛ 898 898 898 898 899 899 90Q 903 905 905 905 906 907 91 912 91 3 շ ց13 g^3 ց13 ց13 924
Contents Treatment Myasthenia gravis Epidemiology Genetic and environmental factors Immunopathology Clinical features and diagnosis Treatment Autoimmune encephalitis Epidemiology Genetic factors Environmental factors Immunopathology Clinical features Diagnosis Treatment Paraneoplastic neurological disorder Epidemiology Immunopathology Clinical features Treatment Summary References xxix 925' 925 925 926 926 929 930 934 934 934 935 935 936 938 940 941 941 942 943 945 945 945 Volume 2 Section D Treatment of allergic diseases 34. Immunotherapy to environmentalallergens 979 Kristine Vanijcharoenkarn and Merin Kuruviila Background Patient selection Formulation of allergen immunotherapy extract Injection schedules Duration of immunotherapy Monitoring of treatment Reactions to allergen immunotherapy Local reactions Systemic reactions Pretreatment Subcutaneous immunotherapy versus sublingual immunotherapy Clinical efficacy Asthma 980 980 982 985 985 988 989 989 989 990 990 990 990
xxx 35. Contents Rhinoconjunctivitis Atopic dermatitis Efficacy of fungal extracts Efficacy of multiallergen immunotherapy Other administration routes New technologies Conclusion References 99 1 992 992 "3 998 999 999 1999 Drug desensitization 1 oos Lourdes Ramirez, Faina Shenderov and Christopher Chang Introduction 1 θθ8 Mechanisms of drug hypersensitivity 10OE Type I hypersensitivity reactions: IgE mediated and поп-IgE mediated 100՜ Type II hypersensitivity reactions 1000 Type III hypersensitivity reactions 1000 Type IV hypersensitivity reactions 1004 Drug desensitization 1000 Mechanisms of drug desensitization 10ОО Indications 1010 Choosing desensitization protocols 1010 Premedication 101' Route and dosing 10І2 Desensitization protocols 1 01 2 Desensitization to vaccines 101 2 Desensitization to antibiotics 101 3 Desensitization to nonsteroidal anti-inflammatory drugs 101 0 Desensitization to monoclonal and chemotherapeutic agents 1022 Optimization of the desensitization procedure—pharmacy considerations 1021’ Conclusion 10 54 References 10 55 36. Oral, sublingual, and dermatologic immunotherapy for food allergy юз9 Mary Grace Baker and Julie Wang Introduction Oral immunotherapy Background/mechanism Studies In combination with other therapies: allergen oral immunotherapy + omalizumab orprobiotics Pros/cons How to incorporate oral immunotherapy intoclinical practice Future directions Epicutaneous immunotherapy 1040 1040 1040 Ю41 1058 1060 1061 Ю61 1061
Contents 1061 1062 1062 1064 1065 1065 1065 1065 1066 1069 1069 1069 1070 Background Mechanism Studies Pros/cons Future directions Sublingual immunotherapy Background Mechanism Studies Pros/cons Future directions Summary References 37. Conventional medications for the treatment of allergic rhinitis and conjunctivitis xxxi 1077 Elizabeth J. Feuille, Wanda Phipatanakul and Perdita Permaul Introduction Medications used for allergic rhinitis and allergic conjunctivitis Overview Nasal saline Antihistamines Glucocorticoids Mast cell-stabilizing agents Anticholinergics Leukotriene receptor antagonists Decongestants Future directions/conclusion Disclosure statement References 38. New biologies in allergy 1078 1079 1079 1090 1090 1095 1097 1099 1099 1100 1101 1103 1103 1111 Heather K. Lehman and Colleen Μ. Sabella Introduction Currently available biologies for allergic diseases Anti-lgE monoclonal antibodies Anti-IL-5 monoclonal antibodies Biologies currently in development Anti-IL-13 monoclonal antibody Anti-thymic stromal lymphopoietin monoclonal antibody CRTH2 antagonists Anti-IL-31 monoclonal antibody Anti-IL-33 monoclonal antibody Non-Th2 biologies in atopic disease Anti-IL-17 monoclonal antibodies 1112 1112 1112 1119 1127 1127 1129 1130 1131 1131 1132 1132
xxxii Contents Anti-IL-22 monoclonal antibody Anti-kallikrein monoclonal antibody Additional considerations when utilizing biological therapies Conclusion References 39. Action plans and quality of life evaluations Ί Ί 33 1133 1134 1135 1 135 1147 Pavadee Poowuttikul and Divya Seth Abbreviations Introduction Objectives of asthma action plans Structure of asthma action plans Asthma action plans and asthma outcome Asthma action plans and quality of life of asthma patients and parents 11 Asthma action plans and adherence to medications Barriers and facilitators of using asthma action plans Quality of life measurement of asthma patients and caregivers Tools to measure quality of life for adults with asthma Tools to measure quality of life for children with asthma and their caregivers Food allergy action plans Quality of life tools for food allergy Conclusion References 40. Treatment of atopic dermatitis 1 i ■θ 1149 11 3) 113 11 3 ՛" 11 3 : 11 ՝ / 1 i (Հ. 1 I 62 11 i՝ 2 I1 6 і I 17 11 /'■ 118 2 11 ' Richika Makol and Peck Y. Ong Introduction Diagnosis and assessment of atopic dermatitis severity Atopic dermatitis triggers Current atopic dermatitis therapy Routine skincare Topical corticosteroids Wet-wrap therapy Topical calcineurin inhibitors Topical phosphodiesterase 4 inhibitor Topical Janus kinase inhibitor Systemic therapy Medications for itch and infections in atopic dermatitis Summary and new treatments on the horizon References Further reading 1191 1192 1194 11 96 1196 1197 11 98 1200 1201 1201 1 շցշ 1203 1204 ļ 2Q5 1211
Contents 41. Recognition and treatment of anaphylaxis xxxiii 1213 Sehrish Viqar and Panida Sriaroon Introduction Recognition of anaphylaxis Definition of anaphylaxis Grading system of anaphylaxis Management of anaphylaxis Epinephrine Acute management following epinephrine administration Other medications Length of observation Fatal anaphylaxis Biphasic reactions Epinephrine autoinjector Prevention of anaphylaxis Education and trigger avoidance Anaphylaxis emergency action plan Outpatient management of anaphylaxis Underuse of epinephrine for the treatment of anaphylaxis Conclusion References 42. Venom allergy evaluation, diagnosis, and treatment 1214 1215 1215 1217 1217 1217 1220 1222 1223 1225 1225 1226 1228 1228 1229 1229 1231 1232 1233 1237 Amy Dowden Epidemiology Etiology Reactions Diagnosis Treatment Prevention Risk factors Biting insect allergy Conclusions References 43. Treatment of itch in atopic dermatitis 1238 1238 1242 1244 1247 1252 1252 1253 1253 1254 1259 Zoe Morgan Lipman, Rachel Shireen Golpanian and Gil Yosipovitch Introduction Pathophysiology of itch in atopicdermatitis Current treatment options for the atopic itch Topical treatments 1260 1260 1262 1262
xxxiv Contents Systemic treatments Emerging treatment options for atopic itch Topical treatments Systemic treatments Conclusion Conflicts of interest References 12bb 1272 1272 1272 1273 12 72 1274 44. Treatment of eosinophilic and hyperéosinophilie disorders Aparna Daley and Gisoo Chaffari General principles of management Key definitions and concepts Eosinopenia Severity of hypereosinophilia Excluding secondary causes Deciding the focus of treatment—the underlying condition, eosinophilia, or both? Risk assessment Deciding when to treat Hypereosinophilia of undetermined significance (asymptomatic hypereosinophilia) General management of hyperéosinophilie syndrome, complications of treatment, and acute life-threatening presentations Treatment approach to myeloproliferative variants Treatment approach to lymphocytic variants Treatment approach to FGFR1-, JAK2-, and FLT3-rearranged neoplasms Treatment approach to idiopathic HES Medications Systemic Glucocorticoids Hydroxyurea Interferon-a Imatinib mesylate Biologic agents Alemtuzumab Mepolizumab Reslizumab Omalizumab Dupilumab Tezepelumab Transplantation Biologic drugs and other medications with potential for future use 1283 1 28 1 128 4 1 2 В4 128 : 1 288 1 28 ’ 1 282 128 1 128' 1 28 129 ! 1291 1292 1293 1293 1295 1296 1296 1298 1298 1299 1299 1300 1300 1300 1300 ļ 302
Contents Benralizumab Anti-Siglec-8 Dexpramipexole Anti-EMR1 Tyrosine kinase inhibitors Ruxolitinib and tofacitinib Therapies that are not efficacious in the management of hyperéosinophilie syndrome Supportive care and surgery Conclusion References Further reading 45. Treatment of urticaria and angioedema xxxv 1302 1303 1303 1303 1303 1303 1304 1304 1305 1305 1308 1309 lennifer Xu and Jennifer Shih Introduction Urticaria Definition of urticaria Treatment of urticaria Angioedema Mast cell mediator-induced angioedema therapy Bradykinin-induced angioedema Summary References 46. Integrative medicine in allergy and immunology 1310 1310 1310 1310 1315 1315 1315 1322 1323 1325 Lidan Linda Zhong, Wai Ching Lam, Hei Lam Helena Cheung and Aiping Lyu Philosophy of integrative medicine in allergy and immunology 1326 Approaches of integrative medicine in allergy and immunology 1327 Evaluation of integrative medicine in allergy and immunology 1328 Allergic rhinitis 1328 Definition in Chinese medicine and integrative medicine 1328 Pathophysiology 1329 Integrative therapy 1330 Preventive approach in Chinese medicine and integrative medicine 1331 Recommendations according to the grade of current practice evidence 1332 Systemic lupus erythematosus 1332 Definition 1332 Pathophysiology 1333 Integrative therapy 1336
xxxvi Contents Preventive approach Level of evidence andrecommendations Rheumatoid arthritis Definition in Chinese medicine andintegrative medicine Pathophysiology Integrative therapy Preventive approach in Chinese medicine and integrative medicine Recommendations according to the grade of current practice evidence Inflammatory bowel disease Definition Pathophysiology Integrative therapy Preventive approach Level of evidence and recommendations Overall summary References 1338 1338 1338 1340 134 1 13+2 I343 1344 1333 1344 1 346 1347 1348 1348 1350 Section E Treatment of immunological disorders 47. Treatment of primary immunodeficiencies and inborn errors of immunity 1363 Usa J. Kobrynski Introduction Nutrition Treatment of antibody deficiencies Immunoglobulin replacement Prophylaxis Complications of antibody deficiencies Treatment of combined immune deficiencies Precautions Prophylaxis Autoimmunity associated with primary immune deficiencies Treatment of phagocytic disorders Prophylaxis Other considerations Treatment of asplenia or hyposplenia Complement deficiencies Vaccination in PIDD Vaccination in В cell defects Vaccination in combined immune deficiency Vaccination in innate immune deficiency 136+ 1364 1365 1365 1370 1372 1374 1374 1375 1377 13 79 1379 1382 1383 1384 1385 1386 1389 1390
Contents Conclusion References 48. Management of autoinflammatory syndromes and periodic fevers xxxvii 1390 1390 1399 Claire J. Peet and Helen J. Lachmann Introduction Management of autoinflammatory diseases by condition Familial Mediterranean fever Cryopyrin-associated periodic syndrome Tumor necrosis factor receptor-associated periodic syndrome Mevalonate kinase deficiency Pharmacological aspects of management Putative pathophysiological mechanisms in autoinflammatory diseases Colchicine Anti-interleukin-1 agents Agents targeting other inflammatory pathways Nonpharmacological aspects of management Setting of care Monitoring in autoinflammatory syndromes Vaccinations in patients with systemic autoinflammatory diseases Family planning and systemic autoinflammatory conditions Conclusions and future directions References 49. Immunomodulatory pharmaceuticals for the treatment of immune dysfunction 1400 1401 1401 1405 1407 1408 1410 1410 1410 1411 1415 1416 1416 141 6 1419 1420 1421 1421 1431 Maria Chitty-Lopez and Jolan E. Walter Background Immune modulation in primary immune deficiency disorder Immune modulators safety profile Infusion-related reactions Infections and organ damage Cytopenias Hypogammaglobulinemia Immunomodulators and immunodeficiencies: special considerations Rituximab and common variableimmunodeficiency Immunomodulation inhemophagocyticlymphohistiocytosis Immunomodulatory drugs and severe Coronavirus disease of 2019 1432 1432 1433 1433 1440 1440 1440 1440 1440 1441 1441
xxxviii Contents Discussion References 50. Management and prophylaxis of infections in primary immunodeficiency 1442 1442 1447 Renata Medina and Christa Zerbe Introduction Immunizations Antimicrobial prophylaxis Antibacterial prophylaxis Antiviral prophylaxis Antifungal prophylaxis Adjunctive therapies Bacterial infections Gram-positive infections Gram-negative infections Mycobacterial infections Viral infections Respiratory viruses Enteric viral infections Herpesviruses Human papillomavirus Poxviruses Polyoma viruses Fungal infections Candida Aspergillus Cryptococcus Endemic mycoses Pneumocystis j¡rovecii Toxoplasma Protozoal infections Treatment Conclusion Acknowledgment References 51. Bone marrow transplant for the patient with primary immune deficiency disorder 1448 1449 1451 1451 1453 1454 14^4 1453 14зЗ 1458 1459 145 ' 146" 145 ՛ 1482 1465 1465 148 r 14 1466 146' 1468 1469 1 479 1470 1471 1471 1471 1471 1472 1479 Gary Kleiner, Siena Vadakal, Erini Nessim Kostandy, Nia Rush, Nevenda Velikova Rose, Nina Hein and lennifer Gebbia History and indications The early days 1480 1480
Contents XXXIX Indications for transplant 1483 Special considerations in bone marrow transplantation for primary immunodeficiency 1484 Transplant process 1485 Transplant complications 1489 Timeline to infections 1491 Preengraftment period 1491 Early postengraftment period 1492 Late postengraftment period 1493 Craft versus host disease 1493 Graft versus host disease severity 1494 Graft versus host disease prophylaxis 1494 Graft versus host disease treatment 1494 Chronic Graft versus host disease 1497 Long-term concerns in primary immune deficiency 1497 Conclusion 1498 References 1499 52. An immunologist's guide to solid-organ transplantation 1505 Maryanne Chrisant Introduction The journey of clinical transplantation Evaluation Listing Transplant Post-transplant Routine transplant maintenance therapy Rejection and treatment Tolerance and ABO-incompatible transplant References 53. The use of therapeutic apheresis in allergic and immunological diseases 1506 1507 1508 1511 1512 1513 1514 1520 1522 1523 1527 Rachel K. Horton, Daniel D. Summerfield and Jeffrey L. Winters Introduction Brief history of apheresis Role of apheresis in immunological disorders Definitions American Society for Apheresis guidelines Overview Indication categories American Society for Apheresis Grade Recommendations 1528 1528 1530 1531 1531 1531 1532 1533
xl Contents Therapeutic plasma exchange General overview Proposed mechanism of action of therapeutic plasma exchange Filtration versus centrifugation Plasma volume treated Vascular access Anticoagulation Replacement fluids Intraprocedural patient management Therapeutic plasma exchange nonselective reduction and recovery of plasma constituents Immunoabsorption General overview Vascular access Available columns Extracorporeal photopheresis General overview Proposed mechanism of extracorporeal photophereis Treatment schedule Vascular access Anticoagulation Determining response to therapy Adsorptive cytapheresis general overview Proposed mechanism Treatment schedule Vascular access Anticoagulation Conclusion References 54. Management and treatment of human immunodeficiency virus 1561 ' ’61 1 ’61 1561 ' 1 ’”4 l. 65 1565 1556 I ’66 1570 1’70 1 з7 ì 157 1 1575 157 5 1576 157 7 1 577' 157 5 1577 1570 1580 1 OOI: 1588 1580 1581 1581 1585 Eric McGrath, joudeh B. Freij, Kelly Valentini and Elizabeth Secord Introduction Rationale for treatment Principles of treatment Pharmacotherapy Introduction to the antiretroviral drug classes Infants and pregnancy Children Adolescents and adults Prevention Postexposure prophylaxis Preferred regimens for postexposure prophylaxis 1586 1586 1586 1587 1587 1589 1594 1595 1597 1597 1601
Contents Preexposure prophylaxis and human immunodeficiency virus prevention Antiretroviral adherence and support References 55. Gene therapy in the treatment of primary immune deficiency diseases xli 1601 1605 1606 1611 Saul O. Lugo Reyes and Armando Partida Gaytán Introduction A history of gene therapy The mechanism Viral vectors Nonviral vectors Applications Setbacks and pitfalls for gene therapy Overexpression Theoretical concerns Leukemic transformation Gene editing CRISPR in immune deficiencies Future perspectives and ethics of gene editing From healing to enhancing COVID-19 vaccines as gene therapies References 1612 1613 1615 1616 1617 1618 1622 1622 1623 1623 1623 1625 1625 1626 1627 1627 Section F Supplements Appendix A: Abbreviations Appendix B: Ordering allergen extracts for skin testing and immunotherapy Appendix C: Oral and parenteral steroid dosing chart Appendix D: Topical corticosteroid potency chart Appendix E: Nonirritating concentrations of drugs for purposes of skin testing Appendix F: Normal values of immune function tests Appendix G: Pneumococcal serotypes in vaccines and testing Appendix H: CD molecules and their function Appendix I: T-cell subsets and ontogeny Appendix J: Immunological check point inhibitors Appendix K: В-cell subsets and ontogeny Appendix L: Monoclonal antibodies and fusion proteins currently in use in allergy and immunology Index 1631 1636 1639 1640 1641 1644 1651 1654 1674 1676 1679 1680 1685 |
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| spelling | Allergic and immunologic diseases a practical guide to the evaluation, diagnosis and management of allergic and immunologic diseases edited by Christopher Chang London Elsevier [2022] 2 Bände txt rdacontent n rdamedia nc rdacarrier Immunologie (DE-588)4026637-0 gnd rswk-swf Allergologie (DE-588)4141924-8 gnd rswk-swf Immunkrankheit (DE-588)4161385-5 gnd rswk-swf Allergie (DE-588)4001257-8 gnd rswk-swf (DE-588)4143413-4 Aufsatzsammlung gnd-content Allergie (DE-588)4001257-8 s Immunkrankheit (DE-588)4161385-5 s DE-604 Allergologie (DE-588)4141924-8 s Immunologie (DE-588)4026637-0 s Chang, Christopher (DE-588)1213474124 edt Digitalisierung UB Augsburg - ADAM Catalogue Enrichment application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=034023756&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
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| title | Allergic and immunologic diseases a practical guide to the evaluation, diagnosis and management of allergic and immunologic diseases |
| title_auth | Allergic and immunologic diseases a practical guide to the evaluation, diagnosis and management of allergic and immunologic diseases |
| title_exact_search | Allergic and immunologic diseases a practical guide to the evaluation, diagnosis and management of allergic and immunologic diseases |
| title_exact_search_txtP | Allergic and immunologic diseases a practical guide to the evaluation, diagnosis and management of allergic and immunologic diseases |
| title_full | Allergic and immunologic diseases a practical guide to the evaluation, diagnosis and management of allergic and immunologic diseases edited by Christopher Chang |
| title_fullStr | Allergic and immunologic diseases a practical guide to the evaluation, diagnosis and management of allergic and immunologic diseases edited by Christopher Chang |
| title_full_unstemmed | Allergic and immunologic diseases a practical guide to the evaluation, diagnosis and management of allergic and immunologic diseases edited by Christopher Chang |
| title_short | Allergic and immunologic diseases |
| title_sort | allergic and immunologic diseases a practical guide to the evaluation diagnosis and management of allergic and immunologic diseases |
| title_sub | a practical guide to the evaluation, diagnosis and management of allergic and immunologic diseases |
| topic | Immunologie (DE-588)4026637-0 gnd Allergologie (DE-588)4141924-8 gnd Immunkrankheit (DE-588)4161385-5 gnd Allergie (DE-588)4001257-8 gnd |
| topic_facet | Immunologie Allergologie Immunkrankheit Allergie Aufsatzsammlung |
| url | http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=034023756&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
| work_keys_str_mv | AT changchristopher allergicandimmunologicdiseasesapracticalguidetotheevaluationdiagnosisandmanagementofallergicandimmunologicdiseases |