Immunodeficiency disorders:
Gespeichert in:
| Format: | Buch |
|---|---|
| Sprache: | English |
| Veröffentlicht: |
Philadelphia, Pa. [u.a.]
Saunders
2008
|
| Schriftenreihe: | Immunology and allergy clinics of North America
28,2 |
| Schlagworte: | |
| Online-Zugang: | Inhaltsverzeichnis |
| Beschreibung: | XVIII S., S. 236 - 483 Ill., graph. Darst. |
| ISBN: | 9781416058564 1416058567 |
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| 245 | 1 | 0 | |a Immunodeficiency disorders |c guest ed.: Jordan S. Orange |
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| 490 | 1 | |a Immunology and allergy clinics of North America |v 28,2 | |
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Datensatz im Suchindex
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I
i
CONTENTS
!
Foreword: Immunodeficiency—Improving the Defidency
of Knowledge xiii
Rafeul Alam
Préface xv
Jordan S. Orange j
From Infectious Diseases to Primary Immunodeficiencies 235
Jacinta Bustamante, Shen-Ying Zhang, Horst von Bernuth,
Laurent Abel, and Jean-Laurent Casanova j
The field of primary immunodeficiencies has expanded, thanks to !
the exploration of novel clinical phenotypes and their connection ]
with morbid génotypes, and the subséquent exploration of new
patients who hâve known primary immunodeficiency-defining
clinical phenotypes and their connection with novel morbid
génotypes. This two-way process is becoming increasingly active,
particularly for patients who hâve infectious diseases in whom the
underlying immunologie and genetic causes remain mostly
unexplained. The authors review how the exploration of children
who hâve clinical infectious diseases caused by mycobacteria,
pneumococcus, and herpès simplex virus recently led to the
description of three new groups of primary immunodeficiencies.
Thèse three examples justify the continuation of the genetic
exploration of novel infectious phenotypes and novel patients
who hâve infections. This challenging process will eventually reap
its rewards, to the benefit of patients and their families.
Congénital Neutropenia Syndromes 259
Kaan Boztug, Karl Welte, Cornelia Zeidler, and Christoph Klein
Congénital neutropenia syndromes comprise a heterogeneous
group of inherited disorders. Hereditary conditions associated
VOLUME 28 • NUMBER 2 • MAY 2008 vii
with low neutrophil counts are persistent and need to be
differentiated from neutropenia secondary to autoimmune pro¬
cesses or other pathologie conditions, such as myelodysplasia or
leukemia. Clinically, congénital neutropenia is characterized by
récurrent bacterial infections. Recently, several novel genetic
defects were described in patients with congénital neutropenia,
shedding light on the pathophysiology of thèse rare diseases.
The Hyper-IgE Syndromes 277
Alexandra F. Freeman and Steven M. Holland
The hyper IgE syndromes (HIES) are rare primary immune
defidencies characterized by elevated sérum IgE, rash, and
récurrent bacterial infections of the skin and lung. Autosomal
dominant HIES, the most common disease in this group, results
from STAT3 mutations and has a variety of connective tissue and
skeletal abnormalities. The genetic etiologies of the more rare
autosomal récessive forms still need delineation. Treatment of thèse
syndromes has relied on prophylactic and therapeutic antimicro-
bial agents and aggressive skin care. The new and evolving genetic
and immunologie understandings of this previously elusive set of
diseases should lead to more effective disease-specific thérapies.
Hemophagocytic Lymphohistiocytosis and Other
Hemophagocytic Disorders 293
Alexandra H. Filipovich
Hemophagocytic disorders resuit when critical regulatory path-
ways responsible for the natural termination of immune/inflam-
matory responses are disrupted or overwhelmed. Hemophagocytic
disorders reflect pathologie defects that alter the normal crosstalk
between innate and adaptive immune responses, and compromise
homeostatic removal of cells that are superfluous or dangerous to
the organism. Although hemophagocytic disorders are considered
rare, increased awareness of thèse conditions has led to more
fréquent diagnoses, more rapid initiation of life-saving treatments,
and new insights into the molécules and pathways involved
in natural immune down-regulation. Furthermore, improved
understanding of the immunologie abnormalities revealed by
hemophagocytic disorders informs potential new treatments for
life-threatening multisystem organ dysfunction related to sepsis in
the intensive care unit setting and severe cases.
Immune Dysregulation in Primary Immunodeficiency
Disorders 315
Troy R. Torgerson
The past several years hâve brought an increased awareness of the
prevalence of autoimmunity and immune dysregulation among
patients who hâve primary immunodeficiency disorders (PIDD).
The récent clinical and molecular définition of PIDD, in which the
viii CONTENTS
primary defect is in the immunoregulatory compartment of the
immune System, has offered insight into the basic mechanisms of
immune tolérance, which has provided new targets and new
techniques to study immune tolérance in PIDD. Many of thèse
studies hâve focused on the présence and function of regulatory T
(Treg) cells in PIDD, particularly since the discovery of murine and
human syndromes associated with TREG deficiency. This article
focuses on the current state of knowledge regarding the rôle of
Treg in various PIDD that hâve clinical features indicative of
dysregulated immunity.
Genetic Defects of Apoptosis and Primary Immunodeficiency 329
Helen C. Su and Michael J. Lenardo
Programmed cell death is important for maintaining lymphocyte
homeostasis. Several human-inherited diseases with impaired
apoptosis hâve been identified at the genetic level: autoimmune
lymphoproliferative syndrome, caspase-8 deficiency state, and
X-linked lymphoproliferative syndrome. Thèse diseases feature
excess lymphocyte accumulation, autoimmunity, or immunodefi¬
ciency. Élucidating their molecular pathogenesis has also provided
new insights into the signaling mechanisms regulating apoptosis
and lymphocyte activation.
Chromosome 22qll.2 Deletion Syndrome: DiGeorge
Syndrome/Velocardiofacial Syndrome 353
Kathleen E. Sullivan
DiGeorge syndrome, or chromosome 22qll.2 deletion syndrome, is
a disorder affecting multiple organ Systems. The immunologist
may be called on to coordinate complex médical care tailored to the
spécifie needs and unique clinical features of each patient. This
article focuses on the immune system, but patients require a
holistic approach. Attention to cardiac, nutritional, and devel-
opmental needs in early infancy is important, and it is critical to
identify the rare infants who require either a lymphocyte or
thymus transplant. Later, speech and school issues dominate the
picture. Allergies and autoimmune disorders also may be troubling
for some school-age children.
Common Variable Immunodeficiency: An Update on Etiology
and Management 367
Patrick F.K. Yong, Michael Tarzi, Ignatius Chua,
Bodo Grimbacher, and Ronnie Chee
Common variable immunodeficiency (CVID) represents a hetero-
geneous group of primary antibody deficiency disorders charac-
terized by récurrent infection and by inflammatory, granulomatous,
and autoimmune complications. Recently, there hâve been signifi-
cant advances in understanding the pathogenesis of the disease,
with five genetic mutations identified in patients who hâve a CVID
CONTENTS i*
phenotype. Clinical care also has progressed with refinements in
treatment and the development of classification schemes for
prognostic and research purposes. Significant delays in diagnosis
remain, however. It is likely that more genetic defects will be
identified in the future, further shrinking the pool of patients who
hâve CVID of unknown cause.
Genetic Diagnosis of Primary Immune Deficiencies 387
Massimo Morra, Ute Geigenmuller, John Curran,
Irène R. Rainville, Tim Brennan, Judd Curtis, Vienna Reichert,
Hayk Hovhannisyan, Joseph Majzoub, and David T. Miller
Gène testing in primary immune deficiencies (PIDs) once was
limited to expert académie laboratoires, but now is easily available
to physicians with a broad range of clinical expertise. Such testing
can establish or confirm a suspected diagnosis and also may
predict future disease risk in advance of clinical signs and
symptoms, infonn reproductive décision making, and guide
clinicians in selecting the most appropriate therapeutic options.
This article, based on the authors expérience and a review of the
published literature, discusses some of the advances and chal¬
lenges currently encountered in the clinical molecular genetic
diagnosis of PIDs.
Principles of and Advances in Immunoglobulin Replacement
Therapy for Primary Immunodeficiency 413
Melvin Berger
During the last 2 décades, the continued development and the
large-scale production of polyclonal immune sérum globulin (ISG)
préparations with improved safety and tolerability profiles hâve
allowed treatment to focus on quality of life and long-term freedom
from the complications of primary immune deficiency disease,
rather than just on freedom from severe acute infections and
survival. Available ISG préparations allow routine therapy by a
variety of routes and regimens that can be tailored to suit
individual patients. Continued vigilance is required, however,
because problems with emerging diseases, and the costs and
availability of ISG are likely to présent continuing challenges.
Advances in Hematopoietic Stem Cell Transplantation
for Primary Immunodeficiency 439
Andrew R. Gennery and Andrew J. Cant
The molecular bases of most primary immunodeficiencies (PID)
hâve been discovered. Long-term follow-up of patient cohorts
treated with antimicrobial prophylaxis has demonstrated good
short-term prognosis but with increasing morbidity and mortality
over time. The results of hematopoietic stem cell transplantation
X CONTENTS
(HSCT) for PID hâve improved incrementally over time, with
survival and cure of 90% for some defined diseases. This article
examines the advances in HSCT for PID and argues that HSCT
should be considered earlier for most patients.
Gène Therapy for Primary Immunodeficiencies 457
Adrian J. Thrasher
Primary immunodeficiencies are a group of disorders that are
highly amenable to gène therapy because of their defined
pathophysiology and the accessibility of the hematopoietic System
to molecular intervention. The development of this new therapeutic
modality has been driven by the established morbidity and
mortality associated with conventional allogeneic stem cell trans¬
plantation, particularly in the human leukocyte antigen-
mismatched setting. Recently, several clinical studies hâve shown
that gamma retroviral gène transfer technology can produce major
bénéficiai therapeutic effects, but, as for ail cellular and pharmaco¬
logie treatment approaches, with a finite potential for toxicity.
Newer developments in vector design showing promise in over-
coming thèse issues are likely to establish gène therapy as an
efficacious strategy for many forms of primary immunodeficiencies.
Index 473
CONTENTS xl
|
| adam_txt |
MMUNODEHCIEMCY DKOKDH©
I
i
CONTENTS
!
Foreword: Immunodeficiency—Improving the Defidency
of Knowledge xiii
Rafeul Alam
Préface xv
Jordan S. Orange j
From Infectious Diseases to Primary Immunodeficiencies 235
Jacinta Bustamante, Shen-Ying Zhang, Horst von Bernuth,
Laurent Abel, and Jean-Laurent Casanova j
The field of primary immunodeficiencies has expanded, thanks to !
the exploration of novel clinical phenotypes and their connection ]
with morbid génotypes, and the subséquent exploration of new \
patients who hâve known primary immunodeficiency-defining
clinical phenotypes and their connection with novel morbid
génotypes. This two-way process is becoming increasingly active,
particularly for patients who hâve infectious diseases in whom the
underlying immunologie and genetic causes remain mostly
unexplained. The authors review how the exploration of children
who hâve clinical infectious diseases caused by mycobacteria,
pneumococcus, and herpès simplex virus recently led to the
description of three new groups of primary immunodeficiencies.
Thèse three examples justify the continuation of the genetic
exploration of novel infectious phenotypes and novel patients
who hâve infections. This challenging process will eventually reap
its rewards, to the benefit of patients and their families.
Congénital Neutropenia Syndromes 259
Kaan Boztug, Karl Welte, Cornelia Zeidler, and Christoph Klein
Congénital neutropenia syndromes comprise a heterogeneous
group of inherited disorders. Hereditary conditions associated
VOLUME 28 • NUMBER 2 • MAY 2008 vii
with low neutrophil counts are persistent and need to be
differentiated from neutropenia secondary to autoimmune pro¬
cesses or other pathologie conditions, such as myelodysplasia or
leukemia. Clinically, congénital neutropenia is characterized by
récurrent bacterial infections. Recently, several novel genetic
defects were described in patients with congénital neutropenia,
shedding light on the pathophysiology of thèse rare diseases.
The Hyper-IgE Syndromes 277
Alexandra F. Freeman and Steven M. Holland
The hyper IgE syndromes (HIES) are rare primary immune
defidencies characterized by elevated sérum IgE, rash, and
récurrent bacterial infections of the skin and lung. Autosomal
dominant HIES, the most common disease in this group, results
from STAT3 mutations and has a variety of connective tissue and
skeletal abnormalities. The genetic etiologies of the more rare
autosomal récessive forms still need delineation. Treatment of thèse
syndromes has relied on prophylactic and therapeutic antimicro-
bial agents and aggressive skin care. The new and evolving genetic
and immunologie understandings of this previously elusive set of
diseases should lead to more effective disease-specific thérapies.
Hemophagocytic Lymphohistiocytosis and Other
Hemophagocytic Disorders 293
Alexandra H. Filipovich
Hemophagocytic disorders resuit when critical regulatory path-
ways responsible for the natural termination of immune/inflam-
matory responses are disrupted or overwhelmed. Hemophagocytic
disorders reflect pathologie defects that alter the normal crosstalk
between innate and adaptive immune responses, and compromise
homeostatic removal of cells that are superfluous or dangerous to
the organism. Although hemophagocytic disorders are considered
rare, increased awareness of thèse conditions has led to more
fréquent diagnoses, more rapid initiation of life-saving treatments,
and new insights into the molécules and pathways involved
in natural immune down-regulation. Furthermore, improved
understanding of the immunologie abnormalities revealed by
hemophagocytic disorders informs potential new treatments for
life-threatening multisystem organ dysfunction related to sepsis in
the intensive care unit setting and severe cases.
Immune Dysregulation in Primary Immunodeficiency
Disorders 315
Troy R. Torgerson
The past several years hâve brought an increased awareness of the
prevalence of autoimmunity and immune dysregulation among
patients who hâve primary immunodeficiency disorders (PIDD).
The récent clinical and molecular définition of PIDD, in which the
viii CONTENTS
primary defect is in the immunoregulatory compartment of the
immune System, has offered insight into the basic mechanisms of
immune tolérance, which has provided new targets and new
techniques to study immune tolérance in PIDD. Many of thèse
studies hâve focused on the présence and function of regulatory T
(Treg) cells in PIDD, particularly since the discovery of murine and
human syndromes associated with TREG deficiency. This article
focuses on the current state of knowledge regarding the rôle of
Treg in various PIDD that hâve clinical features indicative of
dysregulated immunity.
Genetic Defects of Apoptosis and Primary Immunodeficiency 329
Helen C. Su and Michael J. Lenardo
Programmed cell death is important for maintaining lymphocyte
homeostasis. Several human-inherited diseases with impaired
apoptosis hâve been identified at the genetic level: autoimmune
lymphoproliferative syndrome, caspase-8 deficiency state, and
X-linked lymphoproliferative syndrome. Thèse diseases feature
excess lymphocyte accumulation, autoimmunity, or immunodefi¬
ciency. Élucidating their molecular pathogenesis has also provided
new insights into the signaling mechanisms regulating apoptosis
and lymphocyte activation.
Chromosome 22qll.2 Deletion Syndrome: DiGeorge
Syndrome/Velocardiofacial Syndrome 353
Kathleen E. Sullivan
DiGeorge syndrome, or chromosome 22qll.2 deletion syndrome, is
a disorder affecting multiple organ Systems. The immunologist
may be called on to coordinate complex médical care tailored to the
spécifie needs and unique clinical features of each patient. This
article focuses on the immune system, but patients require a
holistic approach. Attention to cardiac, nutritional, and devel-
opmental needs in early infancy is important, and it is critical to
identify the rare infants who require either a lymphocyte or
thymus transplant. Later, speech and school issues dominate the
picture. Allergies and autoimmune disorders also may be troubling
for some school-age children.
Common Variable Immunodeficiency: An Update on Etiology
and Management 367
Patrick F.K. Yong, Michael Tarzi, Ignatius Chua,
Bodo Grimbacher, and Ronnie Chee
Common variable immunodeficiency (CVID) represents a hetero-
geneous group of primary antibody deficiency disorders charac-
terized by récurrent infection and by inflammatory, granulomatous,
and autoimmune complications. Recently, there hâve been signifi-
cant advances in understanding the pathogenesis of the disease,
with five genetic mutations identified in patients who hâve a CVID
CONTENTS i*
phenotype. Clinical care also has progressed with refinements in
treatment and the development of classification schemes for
prognostic and research purposes. Significant delays in diagnosis
remain, however. It is likely that more genetic defects will be
identified in the future, further shrinking the pool of patients who
hâve CVID of unknown cause.
Genetic Diagnosis of Primary Immune Deficiencies 387
Massimo Morra, Ute Geigenmuller, John Curran,
Irène R. Rainville, Tim Brennan, Judd Curtis, Vienna Reichert,
Hayk Hovhannisyan, Joseph Majzoub, and David T. Miller
Gène testing in primary immune deficiencies (PIDs) once was
limited to expert académie laboratoires, but now is easily available
to physicians with a broad range of clinical expertise. Such testing
can establish or confirm a suspected diagnosis and also may
predict future disease risk in advance of clinical signs and
symptoms, infonn reproductive décision making, and guide
clinicians in selecting the most appropriate therapeutic options.
This article, based on the authors' expérience and a review of the
published literature, discusses some of the advances and chal¬
lenges currently encountered in the clinical molecular genetic
diagnosis of PIDs.
Principles of and Advances in Immunoglobulin Replacement
Therapy for Primary Immunodeficiency 413
Melvin Berger
During the last 2 décades, the continued development and the
large-scale production of polyclonal immune sérum globulin (ISG)
préparations with improved safety and tolerability profiles hâve
allowed treatment to focus on quality of life and long-term freedom
from the complications of primary immune deficiency disease,
rather than just on freedom from severe acute infections and
survival. Available ISG préparations allow routine therapy by a
variety of routes and regimens that can be tailored to suit
individual patients. Continued vigilance is required, however,
because problems with emerging diseases, and the costs and
availability of ISG are likely to présent continuing challenges.
Advances in Hematopoietic Stem Cell Transplantation
for Primary Immunodeficiency 439
Andrew R. Gennery and Andrew J. Cant
The molecular bases of most primary immunodeficiencies (PID)
hâve been discovered. Long-term follow-up of patient cohorts
treated with antimicrobial prophylaxis has demonstrated good
short-term prognosis but with increasing morbidity and mortality
over time. The results of hematopoietic stem cell transplantation
X CONTENTS
(HSCT) for PID hâve improved incrementally over time, with
survival and cure of 90% for some defined diseases. This article
examines the advances in HSCT for PID and argues that HSCT
should be considered earlier for most patients.
Gène Therapy for Primary Immunodeficiencies 457
Adrian J. Thrasher
Primary immunodeficiencies are a group of disorders that are
highly amenable to gène therapy because of their defined
pathophysiology and the accessibility of the hematopoietic System
to molecular intervention. The development of this new therapeutic
modality has been driven by the established morbidity and
mortality associated with conventional allogeneic stem cell trans¬
plantation, particularly in the human leukocyte antigen-
mismatched setting. Recently, several clinical studies hâve shown
that gamma retroviral gène transfer technology can produce major
bénéficiai therapeutic effects, but, as for ail cellular and pharmaco¬
logie treatment approaches, with a finite potential for toxicity.
Newer developments in vector design showing promise in over-
coming thèse issues are likely to establish gène therapy as an
efficacious strategy for many forms of primary immunodeficiencies.
Index 473
CONTENTS xl |
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| illustrated | Illustrated |
| index_date | 2024-07-02T21:03:21Z |
| indexdate | 2024-07-09T21:16:28Z |
| institution | BVB |
| isbn | 9781416058564 1416058567 |
| language | English |
| oai_aleph_id | oai:aleph.bib-bvb.de:BVB01-016529216 |
| oclc_num | 225440934 |
| open_access_boolean | |
| owner | DE-29 DE-355 DE-BY-UBR |
| owner_facet | DE-29 DE-355 DE-BY-UBR |
| physical | XVIII S., S. 236 - 483 Ill., graph. Darst. |
| publishDate | 2008 |
| publishDateSearch | 2008 |
| publishDateSort | 2008 |
| publisher | Saunders |
| record_format | marc |
| series | Immunology and allergy clinics of North America |
| series2 | Immunology and allergy clinics of North America |
| spelling | Immunodeficiency disorders guest ed.: Jordan S. Orange Philadelphia, Pa. [u.a.] Saunders 2008 XVIII S., S. 236 - 483 Ill., graph. Darst. txt rdacontent n rdamedia nc rdacarrier Immunology and allergy clinics of North America 28,2 Immunologic Deficiency Syndromes Immunological deficiency syndromes Immundefekt (DE-588)4026622-9 gnd rswk-swf (DE-588)4143413-4 Aufsatzsammlung gnd-content Immundefekt (DE-588)4026622-9 s DE-604 Orange, Jordan S. Sonstige oth Immunology and allergy clinics of North America 28,2 (DE-604)BV000645505 28,2 HBZ Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=016529216&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Immunodeficiency disorders Immunology and allergy clinics of North America Immunologic Deficiency Syndromes Immunological deficiency syndromes Immundefekt (DE-588)4026622-9 gnd |
| subject_GND | (DE-588)4026622-9 (DE-588)4143413-4 |
| title | Immunodeficiency disorders |
| title_auth | Immunodeficiency disorders |
| title_exact_search | Immunodeficiency disorders |
| title_exact_search_txtP | Immunodeficiency disorders |
| title_full | Immunodeficiency disorders guest ed.: Jordan S. Orange |
| title_fullStr | Immunodeficiency disorders guest ed.: Jordan S. Orange |
| title_full_unstemmed | Immunodeficiency disorders guest ed.: Jordan S. Orange |
| title_short | Immunodeficiency disorders |
| title_sort | immunodeficiency disorders |
| topic | Immunologic Deficiency Syndromes Immunological deficiency syndromes Immundefekt (DE-588)4026622-9 gnd |
| topic_facet | Immunologic Deficiency Syndromes Immunological deficiency syndromes Immundefekt Aufsatzsammlung |
| url | http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=016529216&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
| volume_link | (DE-604)BV000645505 |
| work_keys_str_mv | AT orangejordans immunodeficiencydisorders |