Primary Immunodeficiency Diseases: A Molecular & Cellular Approach 2nd ed

Contents......Page 12
Contributors......Page 14
Part I: Overview......Page 20
1. Genetically Determined Immunodeficiency Diseases: A Perspective......Page 22
2. Genetic Principles and Technologies in the Study of Immune Disorders......Page 35
3. Mammalian Hematopoietic Development and Function......Page 46
4. T Cell Development......Page 58
5. Molecular Mechanisms Guiding B Cell Development......Page 80
6. Signal Transduction by T and B Lymphocyte Antigen Receptors......Page 90
7. Lymphoid Organ Development, Cell Trafficking, and Lymphocyte Responses......Page 112
8. Phagocytic System......Page 122
Part II: Syndromes......Page 140
9. X-Linked Severe Combined Immunodeficiency......Page 142
10. Autosomal Recessive Severe Combined Immunodeficiency Due to Defects in Cytokine Signaling Pathways......Page 156
11. V(D)J Recombination Defects......Page 172
12. Immunodeficiency Due to Defects of Purine Metabolism......Page 188
13. Severe Combined Immunodeficiency Due to Mutations in the CD45 Gene......Page 216
14. Severe Combined Immunodeficiency Due to Defects in T Cell Receptor–Associated Protein Kinases......Page 222
15. Human Interleukin-2 Receptor α Deficiency......Page 231
16. CD3 and CD8 Deficiencies......Page 235
17. Molecular Basis of Major Histocompatibility Complex Class II Deficiency......Page 246
18. Peptide Transporter Defects in Human Leukocyte Antigen Class I Deficiency......Page 261
19. CD40, CD40 Ligand, and the Hyper-IgM Syndrome......Page 270
20. Autosomal Hyper-IgM Syndromes Caused by an Intrinsic B Cell Defect......Page 288
21. X-linked Agammaglobulinemia: A Disease of Btk Tyrosine Kinase......Page 298
22. Autosomal Recessive Agammaglobulinemia......Page 323
23. Genetic Approach to Common Variable Immunodeficiency and IgA Deficiency......Page 332
24. Autoimmune Lymphoproliferative Syndrome......Page 345
25. Autoimmune Polyendocrinopathy, Candidiasis, Ectodermal Dystrophy......Page 361
26. Immune Dysregulation, Polyendocrinopathy, Enteropathy, and X-Linked Inheritance......Page 374
27. Periodic Fever Syndromes......Page 386
28. Inherited Disorders of the Interleukin-12/23–Interferon Gamma Axis......Page 409
29. Ataxia-Telangiectasia......Page 421
30. Chromosomal Instability Syndromes Other Than Ataxia-Telangiectasia......Page 446
31. Wiskott-Aldrich Syndrome......Page 473
32. X-Linked Lymphoproliferative Disease Due to Defects of SH2D1A......Page 489
33. DiGeorge Syndrome: A Chromosome 22q11.2 Deletion Syndrome......Page 504
34. Hyper-IgE Recurrent Infection Syndromes......Page 515
35. Immunodeficiency with Centromere Instability and Facial Anomalies......Page 524
36. Immunodeficiencies with Associated Manifestations of Skin, Hair, Teeth, and Skeleton......Page 532
37. Chronic Granulomatous Disease......Page 544
38. Cell Adhesion and Leukocyte Adhesion Defects......Page 569
39. Cyclic and Congenital Neutropenia Due to Defects in Neutrophil Elastase......Page 584
40. Chediak-Higashi Syndrome......Page 589
41. Inherited Hemophagocytic Syndromes......Page 597
42. Genetically Determined Deficiencies of the Complement System......Page 608
Part III: Assessment and Treatment......Page 628
43. Assessment of the Immune System......Page 630
44. Genetic Aspects of Primary Immunodeficiencies......Page 652
45. Immunodeficiency Information Services......Page 663
46. Conventional Therapy of Primary Immunodeficiency Diseases......Page 674
47. Bone Marrow Transplantation for Primary Immunodeficiency Diseases......Page 688
48. Gene Therapy......Page 707
A......Page 726
B......Page 728
C......Page 729
F......Page 732
G......Page 733
H......Page 734
I......Page 735
L......Page 737
M......Page 738
N......Page 739
P......Page 740
R......Page 741
S......Page 742
T......Page 743
X......Page 744
Z......Page 745