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Book Cover
E-book
Author Hans D. Ochs, MD

Title Primary Immunodeficiency Diseases: A Molecular and Genetic Approach
Edition 3rd ed
Published Oxford : Oxford University Press, USA, ©2014

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Description 1 online resource (1 volume)
Contents Cover; Contents; Foreword; Contributors; 1. Genetically Determined Immunodeficiency Diseases: A Perspective; 2. Genetic Principles and Technologies in the Study of Immune Disorders; 3. Mammalian Hematopoietic Development and Function; 4. T-Cell Development; 5. Molecular Mechanisms Guiding B-Cell Development; 6. Signal Transduction by T- and B-Lymphocyte Antigen Receptors; 7. Lymphoid Organ Development, Cell Trafficking, and Lymphocyte Responses; 8. Innate Immunity; 9. Introduction to Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID)
10. Severe Combined Immunodeficiency and Combined Immunodeficiency Due to Cytokine Signaling Defects (IL2RG, JAK3, IL7R, IL2RA, JAK3, and STAT5b)11. T-Cell Receptor Complex Deficiency; 12. Severe Combined Immunodeficiency Due to Mutations in the CD45 Gene; 13. V(D)J Recombination Defects; 14. Immunodeficiency Due to Defects of Purine Metabolism; 15. SCID Due to Defects in T-Cell-Receptor-Associated Protein Kinases (ZAP-70 and Lck); 16. Molecular Basis of Major Histocompatibility Complex Class II Deficiency; 17. Peptide Transporter Defects in Human Leukocyte Antigen Class I Deficiency
18. Reticular Dysgenesis19. CD8 Deficiency; 20. CRAC Channelopathies Due to Mutations in ORAI1 and STIM1; 21. Deficiency of FOXN1; 22. Chronic Mucocutaneous Candidiasis and Susceptibility to Fungal Infections Due to Defects in CARD9 and Dectin-1; 23. Severe Combined Immunodeficiency Due to Absent Coronin-1A; 24. Brief Introduction to B-Lymphocyte Defects; 25. X-linked Agammaglobulinemia and Autosomal Recessive Agammaglobulinemia; 26. CD40 and CD40 Ligand Deficiencies; 27. Autosomal Ig CSR Deficiencies Caused by an Intrinsic B-Cell Defect
28. Genetic Approach to Common Variable Immunodeficiency and IgA Deficiency29. Introduction to Syndromes of Immune Dysregulation and Autoimmunity; 30. Autoimmune Lymphoproliferative Syndrome; 31. Autoimmune Polyglandular Syndrome Type 1; 32. Immune Dysregulation, Polyendocrinopathy, Enteropathy, and X-Linked Inheritance; 33. Recurrent Fever Syndromes; 34. Introduction to Innate Immunity and Syndromic Primary Immunodeficiency Disorders; 35. Inherited Disorders of the Interleukin-12-Interleukin-23/Interferon-Gamma Circuit
Summary 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 prop
Notes Print version record
Subject Immunological deficiency syndromes -- Genetic aspects
Immunologic Deficiency Syndromes -- genetics
MEDICAL -- Surgery -- General.
Form Electronic book
ISBN 019997103X
9780199971039