Case Studies in Immunology

Raif S. Geha, MD, is the James L. Gamble Professor of Pediatrics at the Harvard Medical School and chief of the Division of Immunology, Allergy, and Rheumatology at Boston Children’s Hospital. He combines clinical practice with research on immunodeficiency in patient and transgenic mice, and investigation of the pathogenesis of atopic dermatitis. Luigi D. Notarangelo, MD, is chief of the Laboratory of Clinical Immunology and Microbiology at the National Institute of Allergy and Infectious Diseases, National Institute of Health. He is a leader in the study of the molecular and cellular mechanisms of human primary immune deficiencies and in the treatment of these disorders. He has served as president of the European Society for Immunology and of the Clinical Immunology Society.

• 1. X-linked Agammaglobulinemia 2. CD40 Ligand Deficiency 3. Activation-Induced Cytidine Deaminase Deficiency 4. Common Variable Immunodeficiency 5. X-linked Severe Combined Immunodeficiency 6. Adenosine Deaminase Deficiency 7. Omenn Syndrome 8. MHC Class II Deficiency 9. DiGeorge Syndrome 10. Acquired Immune Deficiency Syndrome (AIDS) 11. Graft-Versus-Host Disease 12. MHC Class I Deficiency 13. X-linked Lymphoproliferative Syndrome 14. Hemophagocytic Lymphohistiocytosis 15. Chediak–Higashi Syndrome 16. Wiskott-Aldrich Syndrome 17. Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy (APECED) 18. Immune Dysregulation, Polyendocrinopathy, Enteropathy X-linked Disease 19. Autoimmune Lymphoproliferative Syndrome (ALPS) 20. Hyper IgE Syndrome21. Ataxia Telangiectasia 22. Warts, Hypogammaglobulinemia, Infections, and Myelokathexis Syndrome (WHIM Syndrome) 23. X-linked Hypohidrotic Ectodermal Dysplasia and Immunodeficiency 24. Interferon-γ Receptor Deficiency 25. Severe Congenital Neutropenia 26. Chronic Granulomatous Disease 27. Leukocyte Adhesion Deficiency 28. Recurrent Herpes Simplex Encephalitis 29. Interleukin 1 Receptor-Associated Kinase 4 Deficiency 30. Congenital Asplenia 31. Hereditary Angioedema 32. Deficiency of the C8 Complement Component 33. Hereditary Periodic Fever Syndromes 34. Systemic Juvenile Idiopathic Arthritis 35. Rheumatoid Arthritis 36. Systemic Lupus Erythematosus 37. Systemic Lupus Erythematosus 38. Multiple Sclerosis 39. Autoimmune Hemolytic Anemia 40. Myasthenia Gravis 41. Pemphigus Vulgaris 42. Celiac Disease 43. Acute Infectious Mononucleosis 44. Hemolytic Disease of the Newborn 45. Toxic Shock Syndrome 46. Lepromatous Leprosy 47. Allergic Asthma 48. Drug-induced Serum Sickness 49. Contact Sensitivity to Poison Ivy 50. Dedicator of Cytokinesis 8 Deficiency 51. Activated PI3KD Syndrome (APDS) 52. Increased Susceptibility to Candida Infections 53. LPS-Responsive Beige-Like Anchor (LRBA) Deficiency 54. T Cell Signaling Defects 55. Channelopathies