000			03813 a2200265 4500
999			_c11035 _d11035
020			_a9780195389838 (hardback : alk. paper)
020			_a9780199971039 (ebook)
050	0	0	_aRC606 _b.PRI 2014
100			_aOchs, Hans D., _d1936-; _eeditor
245	0	0	_aPrimary immunodeficiency diseases : _ba molecular and genetic approach / _cedited by Hans D. Ochs, C.I. Edvard Smith, Jennifer M. Puck.
250			_athird edition
264			_aOxford: _bOxford University Press., _c2014
300			_axviii, 911 p., [32] p. of plates : _bill. (some col.) ;
336			_2text _atxt _brdacontent
337			_2unemdiated _an _brdamedia
338			_2volume _anc _brdacarrier
504			_aIncludes bibliographical references and index.
505			_aCover; 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
520			_aPrimary 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.
650		0	_aImmunological deficiency syndromes _xGenetic aspects.
650	1	2	_aImmunologic Deficiency Syndromes _xgenetics.
700	1		_aSmith, C. I. Edvard, _d1951-
700	1		_aPuck, Jennifer, _d1949-
942			_2lcc _cBK _h606 _iPRI _kRC