Primary Immunodeficiency Diseases: A Molecular and Cellular Approach

Front Cover
Hans D. Ochs,, C. I. Edvard Smith,, Jennifer M. Puck,
OUP USA, 2013 - Health & Fitness - 911 pages
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 prophylactic anti-infective measures to hematopoietic stem cell transplantation and gene therapy — this volume will remain an authoritative resource on this increasingly important area.
 

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Contents

A Perspective
1
2 Genetic Principles and Technologies in the Study of Immune Disorders
21
3 Mammalian Hematopoietic Development and Function
34
4 TCell Development
47
5 Molecular Mechanisms Guiding BCell Development
68
6 Signal Transduction by T and BLymphocyte Antigen Receptors
79
7 Lymphoid Organ Development Cell Trafficking and Lymphocyte Responses
105
8 Innate Immunity
117
33 Recurrent Fever Syndromes
414
34 Introduction to Innate Immunity and Syndromic Primary Immunodeficiency Disorders
448
35 Inherited Disorders of the Interleukin12Interleukin23InterferonGamma Circuit
450
36 Inborn Errors of NFκB Immunity Genetic Immunological and Clinical Heterogeneity
467
37 CartilageHair Hypoplasia
484
38 HyperIgE Recurrent Infection Syndromes
489
39 Hepatic VenoOcclusive Disease with Immunodeficiency
501
40 WHIM Syndrome
509

9 Introduction to Severe Combined Immunodeficiency SCID and Combined Immunodeficiency CID
131
10 Severe Combined Immunodeficiency and Combined Immunodeficiency Due to Cytokine Signaling Defects IL2RG JAK3 IL7R IL2RA JAK3 and ...
134
11 TCell Receptor Complex Deficiency
156
12 Severe Combined Immunodeficiency Due to Mutations in the CD45 Gene
163
13 VDJ Recombination Defects
168
14 Immunodeficiency Due to Defects of Purine Metabolism
188
15 SCID Due to Defects in TCellReceptorAssociated Protein Kinases ZAP70 and Lck
231
16 Molecular Basis of Major Histocompatibility Complex Class II Deficiency
241
17 Peptide Transporter Defects in Human Leukocyte Antigen Class I Deficiency
258
18 Reticular Dysgenesis
269
19 CD8 Deficiency
274
20 CRAC Channelopathies Due to Mutations in ORAI1 and STIM1
279
21 Deficiency of FOXN1
286
22 Chronic Mucocutaneous Candidiasis and Susceptibility to Fungal Infections Due to Defects in CARD9 and Dectin1
291
23 Severe Combined Immunodeficiency Due to Absent Coronin1A
294
24 Brief Introduction to BLymphocyte Defects
297
25 Xlinked Agammaglobulinemia and Autosomal Recessive Agammaglobulinemia
299
26 CD40 and CD40 Ligand Deficiencies
324
27 Autosomal Ig CSR Deficiencies Caused by an Intrinsic BCell Defect
343
28 Genetic Approach to Common Variable Immunodeficiency and IgA Deficiency
356
29 Introduction to Syndromes of Immune Dysregulation and Autoimmunity
366
30 Autoimmune Lymphoproliferative Syndrome
368
31 Autoimmune Polyglandular Syndrome Type 1
387
32 Immune Dysregulation Polyendocrinopathy Enteropathy and XLinked Inheritance
395
41 Pulmonary Alveolar Proteinosis
520
42 Role of TMC6 and TMC8 Genes and EVER Proteins in Epidermodysplasia Verruciformis
525
43 WiskottAldrich Syndrome
531
44 XLinked Lymphoproliferative Diseases
557
A Chromosome 22q112 Deletion Syndrome
580
46 Introduction to Disorders Associated with DNA Repair and Methylation Defects
593
47 AtaxiaTelangiectasia
602
48 Chromosomal Instability Syndromes Other than AtaxiaTelangiectasia
632
49 Immunodeficiency with Centromere Instability and Facial Anomalies ICF Syndrome
662
50 Introduction to Granulocyte Disorders
672
51 Severe Congenital Neutropenia
677
52 Chronic Granulomatous Disease
689
53 Cell Adhesion and Leukocyte Adhesion Defects
723
54 Inherited Hemophagocytic Lymphohistiocytosis Syndromes
742
55 Genetically Determined Deficiencies of Complement Components
757
56 Assessment of the Immune System
780
57 Genetic Aspects of Primary Immunodeficiencies
807
58 Immunodeficiency Information Resources
821
59 Conventional Th erapy of Primary Immunodeficiency Diseases
833
60 Bone Marrow Transplantation for Primary Immunodeficiency Diseases
854
61 Gene Therapy
876
Index
899
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About the author (2013)


Hans D. Ochs, MD, Dr.med, is Professor of Pediatrics, University of Washington and Seattle Children's Research Institute, Seattle, WA.

C. I. Edvard Smith, MD, PhD, is Professor of Molecular Genetics, Karolinska Institutet, Stockholm, Sweden.

Jennifer M. Puck, MD, is Professor of Pediatrics and Medical Director of the Pediatric Clinical Research Center, University of California, San Francisco.

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