Primary Immunodeficiency Diseases: A Molecular and Genetic Approach.:
Primary immunodeficiency diseases, first recognized 60 years ago, are inherited disorders that affect human adaptive and innate immunity. In most cases, affected individuals experience recurrent infections, but they may also suffer from autoimmune diseases and malignancies. This third edition of Pri...
Gespeichert in:
| 1. Verfasser: | |
|---|---|
| Format: | Elektronisch E-Book |
| Sprache: | English |
| Veröffentlicht: |
Oxford :
Oxford University Press, USA,
©2014.
|
| Ausgabe: | 3rd ed. |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Zusammenfassung: | Primary immunodeficiency diseases, first recognized 60 years ago, are inherited disorders that affect human adaptive and innate immunity. In most cases, affected individuals experience recurrent infections, but they may also suffer from autoimmune diseases and malignancies. This third edition of Primary Immunodeficiency Diseases provides readers with the historic and scientific background, clinical presentations, immunologic characteristics, and the molecular/genetic underpinnings of this rapidly enlarging class of diseases. With up-to-date diagnostic tools and therapeutic options -- from prop. |
| Beschreibung: | 1 online resource (1 volume) |
| ISBN: | 019997103X 9780199971039 |
Internformat
MARC
| LEADER | 00000cam a2200000 a 4500 | ||
|---|---|---|---|
| 001 | ZDB-4-EBA-ocn871192913 | ||
| 003 | OCoLC | ||
| 005 | 20241004212047.0 | ||
| 006 | m o d | ||
| 007 | cr |n||||||||| | ||
| 008 | 140228s2014 enk o 000 0 eng d | ||
| 040 | |a CDX |b eng |e pn |c CDX |d OCLCQ |d CGU |d OCLCQ |d N$T |d OCLCQ |d YDXCP |d EBLCP |d OCLCQ |d VGM |d OCLCO |d OCLCA |d UPM |d OCLCO |d YDX |d OCLCQ |d AGLDB |d G3B |d IGB |d STF |d LIP |d OCLCQ |d OCLCO |d OCLCA |d K6U |d OCLCO |d OCLCQ |d OCLCL |d SXB | ||
| 019 | |a 865331956 | ||
| 020 | |a 019997103X |q (electronic bk.) | ||
| 020 | |a 9780199971039 |q (electronic bk.) | ||
| 020 | |z 0195389832 | ||
| 020 | |z 9780195389838 | ||
| 020 | |z 9781306168502 | ||
| 020 | |z 1306168503 | ||
| 035 | |a (OCoLC)871192913 |z (OCoLC)865331956 | ||
| 037 | |a 548101 |b MIL | ||
| 050 | 4 | |a RC606 | |
| 060 | 4 | |a WD 308 | |
| 072 | 7 | |a MED |x 085000 |2 bisacsh | |
| 082 | 7 | |a 617 |b 23 | |
| 049 | |a MAIN | ||
| 100 | 1 | |a Hans D. Ochs, MD. | |
| 245 | 1 | 0 | |a Primary Immunodeficiency Diseases: A Molecular and Genetic Approach. |
| 250 | |a 3rd ed. | ||
| 260 | |a Oxford : |b Oxford University Press, USA, |c ©2014. | ||
| 300 | |a 1 online resource (1 volume) | ||
| 336 | |a text |b txt |2 rdacontent | ||
| 337 | |a computer |b c |2 rdamedia | ||
| 338 | |a online resource |b cr |2 rdacarrier | ||
| 588 | 0 | |a Print version record. | |
| 505 | 0 | |a Cover; Contents; Foreword; Contributors; 1. Genetically Determined Immunodeficiency Diseases: A Perspective; 2. Genetic Principles and Technologies in the Study of Immune Disorders; 3. Mammalian Hematopoietic Development and Function; 4. T-Cell Development; 5. Molecular Mechanisms Guiding B-Cell Development; 6. Signal Transduction by T- and B-Lymphocyte Antigen Receptors; 7. Lymphoid Organ Development, Cell Trafficking, and Lymphocyte Responses; 8. Innate Immunity; 9. Introduction to Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) | |
| 505 | 8 | |a 10. Severe Combined Immunodeficiency and Combined Immunodeficiency Due to Cytokine Signaling Defects (IL2RG, JAK3, IL7R, IL2RA, JAK3, and STAT5b)11. T-Cell Receptor Complex Deficiency; 12. Severe Combined Immunodeficiency Due to Mutations in the CD45 Gene; 13. V(D)J Recombination Defects; 14. Immunodeficiency Due to Defects of Purine Metabolism; 15. SCID Due to Defects in T-Cell-Receptor-Associated Protein Kinases (ZAP-70 and Lck); 16. Molecular Basis of Major Histocompatibility Complex Class II Deficiency; 17. Peptide Transporter Defects in Human Leukocyte Antigen Class I Deficiency | |
| 505 | 8 | |a 18. Reticular Dysgenesis19. CD8 Deficiency; 20. CRAC Channelopathies Due to Mutations in ORAI1 and STIM1; 21. Deficiency of FOXN1; 22. Chronic Mucocutaneous Candidiasis and Susceptibility to Fungal Infections Due to Defects in CARD9 and Dectin-1; 23. Severe Combined Immunodeficiency Due to Absent Coronin-1A; 24. Brief Introduction to B-Lymphocyte Defects; 25. X-linked Agammaglobulinemia and Autosomal Recessive Agammaglobulinemia; 26. CD40 and CD40 Ligand Deficiencies; 27. Autosomal Ig CSR Deficiencies Caused by an Intrinsic B-Cell Defect | |
| 505 | 8 | |a 28. Genetic Approach to Common Variable Immunodeficiency and IgA Deficiency29. Introduction to Syndromes of Immune Dysregulation and Autoimmunity; 30. Autoimmune Lymphoproliferative Syndrome; 31. Autoimmune Polyglandular Syndrome Type 1; 32. Immune Dysregulation, Polyendocrinopathy, Enteropathy, and X-Linked Inheritance; 33. Recurrent Fever Syndromes; 34. Introduction to Innate Immunity and Syndromic Primary Immunodeficiency Disorders; 35. Inherited Disorders of the Interleukin-12-Interleukin-23/Interferon-Gamma Circuit | |
| 520 | |a Primary immunodeficiency diseases, first recognized 60 years ago, are inherited disorders that affect human adaptive and innate immunity. In most cases, affected individuals experience recurrent infections, but they may also suffer from autoimmune diseases and malignancies. This third edition of Primary Immunodeficiency Diseases provides readers with the historic and scientific background, clinical presentations, immunologic characteristics, and the molecular/genetic underpinnings of this rapidly enlarging class of diseases. With up-to-date diagnostic tools and therapeutic options -- from prop. | ||
| 650 | 0 | |a Immunological deficiency syndromes |x Genetic aspects. | |
| 650 | 1 | 2 | |a Immunologic Deficiency Syndromes |x genetics |
| 650 | 6 | |a Syndromes de déficit immunitaire |x Aspect génétique. | |
| 650 | 7 | |a MEDICAL |x Surgery |x General. |2 bisacsh | |
| 655 | 4 | |a Electronic book. | |
| 758 | |i has work: |a Primary immunodeficiency diseases (Text) |1 https://id.oclc.org/worldcat/entity/E39PCFRPm7dDFYYrGkc6XmXC43 |4 https://id.oclc.org/worldcat/ontology/hasWork | ||
| 776 | 0 | 8 | |i Print version: |z 9781306168502 |
| 856 | 4 | 0 | |l FWS01 |p ZDB-4-EBA |q FWS_PDA_EBA |u https://search.ebscohost.com/login.aspx?direct=true&scope=site&db=nlebk&AN=669991 |3 Volltext |
| 936 | |a BATCHLOAD | ||
| 938 | |a Coutts Information Services |b COUT |n 26859385 | ||
| 938 | |a EBL - Ebook Library |b EBLB |n EBL1573142 | ||
| 938 | |a EBSCOhost |b EBSC |n 669991 | ||
| 938 | |a YBP Library Services |b YANK |n 11406329 | ||
| 938 | |a YBP Library Services |b YANK |n 12890504 | ||
| 994 | |a 92 |b GEBAY | ||
| 912 | |a ZDB-4-EBA | ||
| 049 | |a DE-863 | ||
Datensatz im Suchindex
| DE-BY-FWS_katkey | ZDB-4-EBA-ocn871192913 |
|---|---|
| _version_ | 1816882262054010881 |
| adam_text | |
| any_adam_object | |
| author | Hans D. Ochs, MD |
| author_facet | Hans D. Ochs, MD |
| author_role | |
| author_sort | Hans D. Ochs, MD |
| author_variant | d o m h dom domh |
| building | Verbundindex |
| bvnumber | localFWS |
| callnumber-first | R - Medicine |
| callnumber-label | RC606 |
| callnumber-raw | RC606 |
| callnumber-search | RC606 |
| callnumber-sort | RC 3606 |
| callnumber-subject | RC - Internal Medicine |
| collection | ZDB-4-EBA |
| contents | Cover; Contents; Foreword; Contributors; 1. Genetically Determined Immunodeficiency Diseases: A Perspective; 2. Genetic Principles and Technologies in the Study of Immune Disorders; 3. Mammalian Hematopoietic Development and Function; 4. T-Cell Development; 5. Molecular Mechanisms Guiding B-Cell Development; 6. Signal Transduction by T- and B-Lymphocyte Antigen Receptors; 7. Lymphoid Organ Development, Cell Trafficking, and Lymphocyte Responses; 8. Innate Immunity; 9. Introduction to Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) 10. Severe Combined Immunodeficiency and Combined Immunodeficiency Due to Cytokine Signaling Defects (IL2RG, JAK3, IL7R, IL2RA, JAK3, and STAT5b)11. T-Cell Receptor Complex Deficiency; 12. Severe Combined Immunodeficiency Due to Mutations in the CD45 Gene; 13. V(D)J Recombination Defects; 14. Immunodeficiency Due to Defects of Purine Metabolism; 15. SCID Due to Defects in T-Cell-Receptor-Associated Protein Kinases (ZAP-70 and Lck); 16. Molecular Basis of Major Histocompatibility Complex Class II Deficiency; 17. Peptide Transporter Defects in Human Leukocyte Antigen Class I Deficiency 18. Reticular Dysgenesis19. CD8 Deficiency; 20. CRAC Channelopathies Due to Mutations in ORAI1 and STIM1; 21. Deficiency of FOXN1; 22. Chronic Mucocutaneous Candidiasis and Susceptibility to Fungal Infections Due to Defects in CARD9 and Dectin-1; 23. Severe Combined Immunodeficiency Due to Absent Coronin-1A; 24. Brief Introduction to B-Lymphocyte Defects; 25. X-linked Agammaglobulinemia and Autosomal Recessive Agammaglobulinemia; 26. CD40 and CD40 Ligand Deficiencies; 27. Autosomal Ig CSR Deficiencies Caused by an Intrinsic B-Cell Defect 28. Genetic Approach to Common Variable Immunodeficiency and IgA Deficiency29. Introduction to Syndromes of Immune Dysregulation and Autoimmunity; 30. Autoimmune Lymphoproliferative Syndrome; 31. Autoimmune Polyglandular Syndrome Type 1; 32. Immune Dysregulation, Polyendocrinopathy, Enteropathy, and X-Linked Inheritance; 33. Recurrent Fever Syndromes; 34. Introduction to Innate Immunity and Syndromic Primary Immunodeficiency Disorders; 35. Inherited Disorders of the Interleukin-12-Interleukin-23/Interferon-Gamma Circuit |
| ctrlnum | (OCoLC)871192913 |
| dewey-full | 617 |
| dewey-hundreds | 600 - Technology (Applied sciences) |
| dewey-ones | 617 - Surgery & related medical specialties |
| dewey-raw | 617 |
| dewey-search | 617 |
| dewey-sort | 3617 |
| dewey-tens | 610 - Medicine and health |
| discipline | Medizin |
| edition | 3rd ed. |
| format | Electronic eBook |
| fullrecord | <?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>05101cam a2200625 a 4500</leader><controlfield tag="001">ZDB-4-EBA-ocn871192913</controlfield><controlfield tag="003">OCoLC</controlfield><controlfield tag="005">20241004212047.0</controlfield><controlfield tag="006">m o d </controlfield><controlfield tag="007">cr |n|||||||||</controlfield><controlfield tag="008">140228s2014 enk o 000 0 eng d</controlfield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">CDX</subfield><subfield code="b">eng</subfield><subfield code="e">pn</subfield><subfield code="c">CDX</subfield><subfield code="d">OCLCQ</subfield><subfield code="d">CGU</subfield><subfield code="d">OCLCQ</subfield><subfield code="d">N$T</subfield><subfield code="d">OCLCQ</subfield><subfield code="d">YDXCP</subfield><subfield code="d">EBLCP</subfield><subfield code="d">OCLCQ</subfield><subfield code="d">VGM</subfield><subfield code="d">OCLCO</subfield><subfield code="d">OCLCA</subfield><subfield code="d">UPM</subfield><subfield code="d">OCLCO</subfield><subfield code="d">YDX</subfield><subfield code="d">OCLCQ</subfield><subfield code="d">AGLDB</subfield><subfield code="d">G3B</subfield><subfield code="d">IGB</subfield><subfield code="d">STF</subfield><subfield code="d">LIP</subfield><subfield code="d">OCLCQ</subfield><subfield code="d">OCLCO</subfield><subfield code="d">OCLCA</subfield><subfield code="d">K6U</subfield><subfield code="d">OCLCO</subfield><subfield code="d">OCLCQ</subfield><subfield code="d">OCLCL</subfield><subfield code="d">SXB</subfield></datafield><datafield tag="019" ind1=" " ind2=" "><subfield code="a">865331956</subfield></datafield><datafield tag="020" ind1=" " ind2=" "><subfield code="a">019997103X</subfield><subfield code="q">(electronic bk.)</subfield></datafield><datafield tag="020" ind1=" " ind2=" "><subfield code="a">9780199971039</subfield><subfield code="q">(electronic bk.)</subfield></datafield><datafield tag="020" ind1=" " ind2=" "><subfield code="z">0195389832</subfield></datafield><datafield tag="020" ind1=" " ind2=" "><subfield code="z">9780195389838</subfield></datafield><datafield tag="020" ind1=" " ind2=" "><subfield code="z">9781306168502</subfield></datafield><datafield tag="020" ind1=" " ind2=" "><subfield code="z">1306168503</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(OCoLC)871192913</subfield><subfield code="z">(OCoLC)865331956</subfield></datafield><datafield tag="037" ind1=" " ind2=" "><subfield code="a">548101</subfield><subfield code="b">MIL</subfield></datafield><datafield tag="050" ind1=" " ind2="4"><subfield code="a">RC606</subfield></datafield><datafield tag="060" ind1=" " ind2="4"><subfield code="a">WD 308</subfield></datafield><datafield tag="072" ind1=" " ind2="7"><subfield code="a">MED</subfield><subfield code="x">085000</subfield><subfield code="2">bisacsh</subfield></datafield><datafield tag="082" ind1="7" ind2=" "><subfield code="a">617</subfield><subfield code="b">23</subfield></datafield><datafield tag="049" ind1=" " ind2=" "><subfield code="a">MAIN</subfield></datafield><datafield tag="100" ind1="1" ind2=" "><subfield code="a">Hans D. Ochs, MD.</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Primary Immunodeficiency Diseases: A Molecular and Genetic Approach.</subfield></datafield><datafield tag="250" ind1=" " ind2=" "><subfield code="a">3rd ed.</subfield></datafield><datafield tag="260" ind1=" " ind2=" "><subfield code="a">Oxford :</subfield><subfield code="b">Oxford University Press, USA,</subfield><subfield code="c">©2014.</subfield></datafield><datafield tag="300" ind1=" " ind2=" "><subfield code="a">1 online resource (1 volume)</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">text</subfield><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">computer</subfield><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">online resource</subfield><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="588" ind1="0" ind2=" "><subfield code="a">Print version record.</subfield></datafield><datafield tag="505" ind1="0" ind2=" "><subfield code="a">Cover; Contents; Foreword; Contributors; 1. Genetically Determined Immunodeficiency Diseases: A Perspective; 2. Genetic Principles and Technologies in the Study of Immune Disorders; 3. Mammalian Hematopoietic Development and Function; 4. T-Cell Development; 5. Molecular Mechanisms Guiding B-Cell Development; 6. Signal Transduction by T- and B-Lymphocyte Antigen Receptors; 7. Lymphoid Organ Development, Cell Trafficking, and Lymphocyte Responses; 8. Innate Immunity; 9. Introduction to Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID)</subfield></datafield><datafield tag="505" ind1="8" ind2=" "><subfield code="a">10. Severe Combined Immunodeficiency and Combined Immunodeficiency Due to Cytokine Signaling Defects (IL2RG, JAK3, IL7R, IL2RA, JAK3, and STAT5b)11. T-Cell Receptor Complex Deficiency; 12. Severe Combined Immunodeficiency Due to Mutations in the CD45 Gene; 13. V(D)J Recombination Defects; 14. Immunodeficiency Due to Defects of Purine Metabolism; 15. SCID Due to Defects in T-Cell-Receptor-Associated Protein Kinases (ZAP-70 and Lck); 16. Molecular Basis of Major Histocompatibility Complex Class II Deficiency; 17. Peptide Transporter Defects in Human Leukocyte Antigen Class I Deficiency</subfield></datafield><datafield tag="505" ind1="8" ind2=" "><subfield code="a">18. Reticular Dysgenesis19. CD8 Deficiency; 20. CRAC Channelopathies Due to Mutations in ORAI1 and STIM1; 21. Deficiency of FOXN1; 22. Chronic Mucocutaneous Candidiasis and Susceptibility to Fungal Infections Due to Defects in CARD9 and Dectin-1; 23. Severe Combined Immunodeficiency Due to Absent Coronin-1A; 24. Brief Introduction to B-Lymphocyte Defects; 25. X-linked Agammaglobulinemia and Autosomal Recessive Agammaglobulinemia; 26. CD40 and CD40 Ligand Deficiencies; 27. Autosomal Ig CSR Deficiencies Caused by an Intrinsic B-Cell Defect</subfield></datafield><datafield tag="505" ind1="8" ind2=" "><subfield code="a">28. Genetic Approach to Common Variable Immunodeficiency and IgA Deficiency29. Introduction to Syndromes of Immune Dysregulation and Autoimmunity; 30. Autoimmune Lymphoproliferative Syndrome; 31. Autoimmune Polyglandular Syndrome Type 1; 32. Immune Dysregulation, Polyendocrinopathy, Enteropathy, and X-Linked Inheritance; 33. Recurrent Fever Syndromes; 34. Introduction to Innate Immunity and Syndromic Primary Immunodeficiency Disorders; 35. Inherited Disorders of the Interleukin-12-Interleukin-23/Interferon-Gamma Circuit</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Primary immunodeficiency diseases, first recognized 60 years ago, are inherited disorders that affect human adaptive and innate immunity. In most cases, affected individuals experience recurrent infections, but they may also suffer from autoimmune diseases and malignancies. This third edition of Primary Immunodeficiency Diseases provides readers with the historic and scientific background, clinical presentations, immunologic characteristics, and the molecular/genetic underpinnings of this rapidly enlarging class of diseases. With up-to-date diagnostic tools and therapeutic options -- from prop.</subfield></datafield><datafield tag="650" ind1=" " ind2="0"><subfield code="a">Immunological deficiency syndromes</subfield><subfield code="x">Genetic aspects.</subfield></datafield><datafield tag="650" ind1="1" ind2="2"><subfield code="a">Immunologic Deficiency Syndromes</subfield><subfield code="x">genetics</subfield></datafield><datafield tag="650" ind1=" " ind2="6"><subfield code="a">Syndromes de déficit immunitaire</subfield><subfield code="x">Aspect génétique.</subfield></datafield><datafield tag="650" ind1=" " ind2="7"><subfield code="a">MEDICAL</subfield><subfield code="x">Surgery</subfield><subfield code="x">General.</subfield><subfield code="2">bisacsh</subfield></datafield><datafield tag="655" ind1=" " ind2="4"><subfield code="a">Electronic book.</subfield></datafield><datafield tag="758" ind1=" " ind2=" "><subfield code="i">has work:</subfield><subfield code="a">Primary immunodeficiency diseases (Text)</subfield><subfield code="1">https://id.oclc.org/worldcat/entity/E39PCFRPm7dDFYYrGkc6XmXC43</subfield><subfield code="4">https://id.oclc.org/worldcat/ontology/hasWork</subfield></datafield><datafield tag="776" ind1="0" ind2="8"><subfield code="i">Print version:</subfield><subfield code="z">9781306168502</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="l">FWS01</subfield><subfield code="p">ZDB-4-EBA</subfield><subfield code="q">FWS_PDA_EBA</subfield><subfield code="u">https://search.ebscohost.com/login.aspx?direct=true&scope=site&db=nlebk&AN=669991</subfield><subfield code="3">Volltext</subfield></datafield><datafield tag="936" ind1=" " ind2=" "><subfield code="a">BATCHLOAD</subfield></datafield><datafield tag="938" ind1=" " ind2=" "><subfield code="a">Coutts Information Services</subfield><subfield code="b">COUT</subfield><subfield code="n">26859385</subfield></datafield><datafield tag="938" ind1=" " ind2=" "><subfield code="a">EBL - Ebook Library</subfield><subfield code="b">EBLB</subfield><subfield code="n">EBL1573142</subfield></datafield><datafield tag="938" ind1=" " ind2=" "><subfield code="a">EBSCOhost</subfield><subfield code="b">EBSC</subfield><subfield code="n">669991</subfield></datafield><datafield tag="938" ind1=" " ind2=" "><subfield code="a">YBP Library Services</subfield><subfield code="b">YANK</subfield><subfield code="n">11406329</subfield></datafield><datafield tag="938" ind1=" " ind2=" "><subfield code="a">YBP Library Services</subfield><subfield code="b">YANK</subfield><subfield code="n">12890504</subfield></datafield><datafield tag="994" ind1=" " ind2=" "><subfield code="a">92</subfield><subfield code="b">GEBAY</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">ZDB-4-EBA</subfield></datafield><datafield tag="049" ind1=" " ind2=" "><subfield code="a">DE-863</subfield></datafield></record></collection> |
| genre | Electronic book. |
| genre_facet | Electronic book. |
| id | ZDB-4-EBA-ocn871192913 |
| illustrated | Not Illustrated |
| indexdate | 2024-11-27T13:25:49Z |
| institution | BVB |
| isbn | 019997103X 9780199971039 |
| language | English |
| oclc_num | 871192913 |
| open_access_boolean | |
| owner | MAIN DE-863 DE-BY-FWS |
| owner_facet | MAIN DE-863 DE-BY-FWS |
| physical | 1 online resource (1 volume) |
| psigel | ZDB-4-EBA |
| publishDate | 2014 |
| publishDateSearch | 2014 |
| publishDateSort | 2014 |
| publisher | Oxford University Press, USA, |
| record_format | marc |
| spelling | Hans D. Ochs, MD. Primary Immunodeficiency Diseases: A Molecular and Genetic Approach. 3rd ed. Oxford : Oxford University Press, USA, ©2014. 1 online resource (1 volume) text txt rdacontent computer c rdamedia online resource cr rdacarrier Print version record. Cover; Contents; Foreword; Contributors; 1. Genetically Determined Immunodeficiency Diseases: A Perspective; 2. Genetic Principles and Technologies in the Study of Immune Disorders; 3. Mammalian Hematopoietic Development and Function; 4. T-Cell Development; 5. Molecular Mechanisms Guiding B-Cell Development; 6. Signal Transduction by T- and B-Lymphocyte Antigen Receptors; 7. Lymphoid Organ Development, Cell Trafficking, and Lymphocyte Responses; 8. Innate Immunity; 9. Introduction to Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) 10. Severe Combined Immunodeficiency and Combined Immunodeficiency Due to Cytokine Signaling Defects (IL2RG, JAK3, IL7R, IL2RA, JAK3, and STAT5b)11. T-Cell Receptor Complex Deficiency; 12. Severe Combined Immunodeficiency Due to Mutations in the CD45 Gene; 13. V(D)J Recombination Defects; 14. Immunodeficiency Due to Defects of Purine Metabolism; 15. SCID Due to Defects in T-Cell-Receptor-Associated Protein Kinases (ZAP-70 and Lck); 16. Molecular Basis of Major Histocompatibility Complex Class II Deficiency; 17. Peptide Transporter Defects in Human Leukocyte Antigen Class I Deficiency 18. Reticular Dysgenesis19. CD8 Deficiency; 20. CRAC Channelopathies Due to Mutations in ORAI1 and STIM1; 21. Deficiency of FOXN1; 22. Chronic Mucocutaneous Candidiasis and Susceptibility to Fungal Infections Due to Defects in CARD9 and Dectin-1; 23. Severe Combined Immunodeficiency Due to Absent Coronin-1A; 24. Brief Introduction to B-Lymphocyte Defects; 25. X-linked Agammaglobulinemia and Autosomal Recessive Agammaglobulinemia; 26. CD40 and CD40 Ligand Deficiencies; 27. Autosomal Ig CSR Deficiencies Caused by an Intrinsic B-Cell Defect 28. Genetic Approach to Common Variable Immunodeficiency and IgA Deficiency29. Introduction to Syndromes of Immune Dysregulation and Autoimmunity; 30. Autoimmune Lymphoproliferative Syndrome; 31. Autoimmune Polyglandular Syndrome Type 1; 32. Immune Dysregulation, Polyendocrinopathy, Enteropathy, and X-Linked Inheritance; 33. Recurrent Fever Syndromes; 34. Introduction to Innate Immunity and Syndromic Primary Immunodeficiency Disorders; 35. Inherited Disorders of the Interleukin-12-Interleukin-23/Interferon-Gamma Circuit Primary immunodeficiency diseases, first recognized 60 years ago, are inherited disorders that affect human adaptive and innate immunity. In most cases, affected individuals experience recurrent infections, but they may also suffer from autoimmune diseases and malignancies. This third edition of Primary Immunodeficiency Diseases provides readers with the historic and scientific background, clinical presentations, immunologic characteristics, and the molecular/genetic underpinnings of this rapidly enlarging class of diseases. With up-to-date diagnostic tools and therapeutic options -- from prop. Immunological deficiency syndromes Genetic aspects. Immunologic Deficiency Syndromes genetics Syndromes de déficit immunitaire Aspect génétique. MEDICAL Surgery General. bisacsh Electronic book. has work: Primary immunodeficiency diseases (Text) https://id.oclc.org/worldcat/entity/E39PCFRPm7dDFYYrGkc6XmXC43 https://id.oclc.org/worldcat/ontology/hasWork Print version: 9781306168502 FWS01 ZDB-4-EBA FWS_PDA_EBA https://search.ebscohost.com/login.aspx?direct=true&scope=site&db=nlebk&AN=669991 Volltext |
| spellingShingle | Hans D. Ochs, MD Primary Immunodeficiency Diseases: A Molecular and Genetic Approach. Cover; Contents; Foreword; Contributors; 1. Genetically Determined Immunodeficiency Diseases: A Perspective; 2. Genetic Principles and Technologies in the Study of Immune Disorders; 3. Mammalian Hematopoietic Development and Function; 4. T-Cell Development; 5. Molecular Mechanisms Guiding B-Cell Development; 6. Signal Transduction by T- and B-Lymphocyte Antigen Receptors; 7. Lymphoid Organ Development, Cell Trafficking, and Lymphocyte Responses; 8. Innate Immunity; 9. Introduction to Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) 10. Severe Combined Immunodeficiency and Combined Immunodeficiency Due to Cytokine Signaling Defects (IL2RG, JAK3, IL7R, IL2RA, JAK3, and STAT5b)11. T-Cell Receptor Complex Deficiency; 12. Severe Combined Immunodeficiency Due to Mutations in the CD45 Gene; 13. V(D)J Recombination Defects; 14. Immunodeficiency Due to Defects of Purine Metabolism; 15. SCID Due to Defects in T-Cell-Receptor-Associated Protein Kinases (ZAP-70 and Lck); 16. Molecular Basis of Major Histocompatibility Complex Class II Deficiency; 17. Peptide Transporter Defects in Human Leukocyte Antigen Class I Deficiency 18. Reticular Dysgenesis19. CD8 Deficiency; 20. CRAC Channelopathies Due to Mutations in ORAI1 and STIM1; 21. Deficiency of FOXN1; 22. Chronic Mucocutaneous Candidiasis and Susceptibility to Fungal Infections Due to Defects in CARD9 and Dectin-1; 23. Severe Combined Immunodeficiency Due to Absent Coronin-1A; 24. Brief Introduction to B-Lymphocyte Defects; 25. X-linked Agammaglobulinemia and Autosomal Recessive Agammaglobulinemia; 26. CD40 and CD40 Ligand Deficiencies; 27. Autosomal Ig CSR Deficiencies Caused by an Intrinsic B-Cell Defect 28. Genetic Approach to Common Variable Immunodeficiency and IgA Deficiency29. Introduction to Syndromes of Immune Dysregulation and Autoimmunity; 30. Autoimmune Lymphoproliferative Syndrome; 31. Autoimmune Polyglandular Syndrome Type 1; 32. Immune Dysregulation, Polyendocrinopathy, Enteropathy, and X-Linked Inheritance; 33. Recurrent Fever Syndromes; 34. Introduction to Innate Immunity and Syndromic Primary Immunodeficiency Disorders; 35. Inherited Disorders of the Interleukin-12-Interleukin-23/Interferon-Gamma Circuit Immunological deficiency syndromes Genetic aspects. Immunologic Deficiency Syndromes genetics Syndromes de déficit immunitaire Aspect génétique. MEDICAL Surgery General. bisacsh |
| title | Primary Immunodeficiency Diseases: A Molecular and Genetic Approach. |
| title_auth | Primary Immunodeficiency Diseases: A Molecular and Genetic Approach. |
| title_exact_search | Primary Immunodeficiency Diseases: A Molecular and Genetic Approach. |
| title_full | Primary Immunodeficiency Diseases: A Molecular and Genetic Approach. |
| title_fullStr | Primary Immunodeficiency Diseases: A Molecular and Genetic Approach. |
| title_full_unstemmed | Primary Immunodeficiency Diseases: A Molecular and Genetic Approach. |
| title_short | Primary Immunodeficiency Diseases: A Molecular and Genetic Approach. |
| title_sort | primary immunodeficiency diseases a molecular and genetic approach |
| topic | Immunological deficiency syndromes Genetic aspects. Immunologic Deficiency Syndromes genetics Syndromes de déficit immunitaire Aspect génétique. MEDICAL Surgery General. bisacsh |
| topic_facet | Immunological deficiency syndromes Genetic aspects. Immunologic Deficiency Syndromes genetics Syndromes de déficit immunitaire Aspect génétique. MEDICAL Surgery General. Electronic book. |
| url | https://search.ebscohost.com/login.aspx?direct=true&scope=site&db=nlebk&AN=669991 |
| work_keys_str_mv | AT hansdochsmd primaryimmunodeficiencydiseasesamolecularandgeneticapproach |