| Foreword |
|
vii | |
| Contributors |
|
xiii | |
|
1 Genetically Determined Immunodeficiency Diseases: A Perspective |
|
|
1 | (20) |
|
|
|
|
|
|
|
2 Genetic Principles and Technologies in the Study of Immune Disorders |
|
|
21 | (13) |
|
|
|
|
|
3 Mammalian Hematopoietic Development and Function |
|
|
34 | (13) |
|
|
|
|
|
47 | (21) |
|
Juan Carlos Zuniga-Pflucker |
|
|
|
|
|
|
|
|
5 Molecular Mechanisms Guiding B-Cell Development |
|
|
68 | (11) |
|
|
|
|
|
6 Signal Transduction by T- and B-Lymphocyte Antigen Receptors |
|
|
79 | (26) |
|
|
|
|
|
7 Lymphoid Organ Development, Cell Trafficking, and Lymphocyte Responses |
|
|
105 | (12) |
|
|
|
|
|
|
|
117 | (14) |
|
|
|
|
|
|
|
9 Introduction to Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) |
|
|
131 | (3) |
|
|
|
10 Severe Combined Immunodeficiency and Combined Immunodeficiency Due to Cytokine Signaling Defects (IL2RG, JAK3, IL7R, IL2RA, JAK3, and STAT5b) |
|
|
134 | (22) |
|
|
|
|
|
|
|
|
|
11 T-Cell Receptor Complex Deficiency |
|
|
156 | (7) |
|
|
|
|
|
12 Severe Combined Immunodeficiency Due to Mutations in the CD45 Gene |
|
|
163 | (5) |
|
|
|
|
|
13 V(D)J Recombination Defects |
|
|
168 | (20) |
|
|
|
|
|
|
|
|
|
14 Immunodeficiency Due to Defects of Purine Metabolism |
|
|
188 | (43) |
|
|
|
|
|
|
|
|
|
15 SCID Due to Defects in T-Cell-Receptor--Associated Protein Kinases (ZAP-70 and Lck) |
|
|
231 | (10) |
|
|
|
|
|
16 Molecular Basis of Major Histocompatibility Complex Class II Deficiency |
|
|
241 | (17) |
|
|
|
|
|
|
|
17 Peptide Transporter Defects in Human Leukocyte Antigen Class I Deficiency |
|
|
258 | (11) |
|
|
|
|
|
|
|
|
|
269 | (5) |
|
|
|
|
|
|
|
|
|
|
|
274 | (5) |
|
|
|
|
|
20 CRAC Channelopathies Due to Mutations in ORAI1 and STIM1 |
|
|
279 | (7) |
|
|
|
|
|
286 | (5) |
|
|
|
|
|
|
|
22 Chronic Mucocutaneous Candidiasis and Susceptibility to Fungal Infections Due to Defects in CARD9 and Dectin-1 |
|
|
291 | (3) |
|
|
|
23 Severe Combined Immunodeficiency Due to Absent Coronin-1A |
|
|
294 | (3) |
|
|
|
|
|
|
|
24 Brief Introduction to B-Lymphocyte Defects |
|
|
297 | (2) |
|
|
|
25 X-linked Agammaglobulinemia and Autosomal Recessive Agammaglobulinemia |
|
|
299 | (25) |
|
|
|
|
|
26 CD40 and CD40 Ligand Deficiencies |
|
|
324 | (19) |
|
|
|
|
|
|
|
27 Autosomal Ig CSR Deficiencies Caused by an Intrinsic B-Cell Defect |
|
|
343 | (13) |
|
|
|
|
|
|
|
|
|
28 Genetic Approach to Common Variable Immunodeficiency and IgA Deficiency |
|
|
356 | (10) |
|
|
|
29 Introduction to Syndromes of Immune Dysregulation and Autoimmunity |
|
|
366 | (2) |
|
|
|
|
|
30 Autoimmune Lymphoproliferative Syndrome |
|
|
368 | (19) |
|
|
|
|
|
|
|
31 Autoimmune Polyglandular Syndrome Type 1 |
|
|
387 | (8) |
|
|
|
|
|
32 Immune Dysregulation, Polyendocrinopathy, Enteropathy, and X-Linked Inheritance |
|
|
395 | (19) |
|
|
|
|
|
|
|
33 Recurrent Fever Syndromes |
|
|
414 | (34) |
|
|
|
|
|
|
|
34 Introduction to Innate Immunity and Syndromic Primary Immunodeficiency Disorders |
|
|
448 | (2) |
|
|
|
35 Inherited Disorders of the Interleukin-12--Interleukin-23/Interferon-Gamma Circuit |
|
|
450 | (17) |
|
|
|
|
|
36 Inborn Errors of NF-kB Immunity. Genetic, Immunological, and Clinical Heterogeneity |
|
|
467 | (17) |
|
|
|
|
|
|
|
|
|
|
|
37 Cartilage-Hair Hypoplasia |
|
|
484 | (5) |
|
|
|
38 Hyper-IgE Recurrent Infection Syndromes |
|
|
489 | (12) |
|
|
|
|
|
|
|
|
|
|
|
39 Hepatic Veno-Occlusive Disease with Immunodeficiency |
|
|
501 | (8) |
|
|
|
|
|
|
|
509 | (11) |
|
|
|
41 Pulmonary Alveolar Proteinosis |
|
|
520 | (5) |
|
|
|
42 Role of TMC6 and TMC8 Genes and EVER Proteins in Epidermodysplasia Verruciformis |
|
|
525 | (6) |
|
|
|
|
|
|
|
43 Wiskott-Aldrich Syndrome |
|
|
531 | (26) |
|
|
|
|
|
44 X-Linked Lymphoproliferative Diseases |
|
|
557 | (23) |
|
|
|
|
|
45 DiGeorge Syndrome: A Chromosome 22q11.2 Deletion Syndrome |
|
|
580 | (13) |
|
|
|
|
|
46 Introduction to Disorders Associated with DNA Repair and Methylation Defects |
|
|
593 | (9) |
|
|
|
|
|
|
|
602 | (30) |
|
|
|
|
|
|
|
48 Chromosomal Instability Syndromes Other than Ataxia-Telangiectasia |
|
|
632 | (30) |
|
|
|
|
|
|
|
|
|
|
|
49 Immunodeficiency with Centromere Instability and Facial Anomalies (ICF Syndrome) |
|
|
662 | (10) |
|
|
|
|
|
Silvere M. van der Maarel |
|
|
50 Introduction to Granulocyte Disorders |
|
|
672 | (5) |
|
|
|
|
|
|
|
51 Severe Congenital Neutropenia |
|
|
677 | (12) |
|
|
|
52 Chronic Granulomatous Disease |
|
|
689 | (34) |
|
|
|
|
|
|
|
53 Cell Adhesion and Leukocyte Adhesion Defects |
|
|
723 | (19) |
|
|
|
|
|
54 Inherited Hemophagocytic Lymphohistiocytosis Syndromes |
|
|
742 | (15) |
|
Genevieve de Saint Basile |
|
|
55 Genetically Determined Deficiencies of Complement Components |
|
|
757 | (23) |
|
|
|
|
|
56 Assessment of the Immune System |
|
|
780 | (27) |
|
|
|
|
|
57 Genetic Aspects of Primary Immunodeficiencies |
|
|
807 | (14) |
|
|
|
58 Immunodeficiency Information Resources |
|
|
821 | (12) |
|
|
|
|
|
|
|
59 Conventional Therapy of Primary Immunodeficiency Diseases |
|
|
833 | (21) |
|
|
|
|
|
60 Bone Marrow Transplantation for Primary Immunodeficiency Diseases |
|
|
854 | (22) |
|
|
|
|
|
|
|
|
|
876 | (23) |
|
|
|
|
| Index |
|
899 | |
