Primary Immunodeficiency Diseases: A Molecular and Genetic Approach

Alain Fischer; Chapter 17: Peptide Transporter Defects in Human Leukocyte Antigen Class I Deficiency; Henri De La Salle, Lionel Donato, and Daniel Hanau; Chapter 18: Reticular Dysgenesis; Wilhelm Friedrich, Manfred Hoenig, Ulrich Pannicke, Klaus Schwarz; Chapter 19: CD8 Deficiency; T.Espanol , E. Mancebo; Chapter 20: CRAC channelopathies due to mutations in ORAI1 and STIM1; Stefan Feske; Chapter 21: Deficiency of FOXN1; Claudio Pignata, Anna Fusco, Stefania Amorosi; Chapter 22: Chronic mucocutaneous candidiasis (CMC) and susceptibility to fungal infections due to defects in CARD9 and Dectin-1; Bodo Grimbacher; Chapter 23: Severe Combined Immunodeficiency Due to Absent; Coronin-1A; Lawrence R. Shiow, Kenneth Paris, Jennifer M. Puck; Chapter 24: Brief introduction to B lymphocyte defects; C. I. Edvard Smith; Chapter 25: X-linked Agammaglobulinemia and Autosomal Recessive Agammaglobulinemia; C. I. Edvard Smith & Mary Ellen Conley; Chapter 26: CD40 and CD40 Ligand Deficiencies; Luigi D. Notarangelo, Silvia Giliani, and Alessandro Plebani; Chapter 27: Autosomal Ig CSR-deficiencies Caused by an Intrinsic B Cell Defect; Anne Durandy, Sven Kracker, Pauline Gardes, and Alain Fischer; Chapter 28: Genetic Approach to Common Variable Immunodeficiency and IgA Deficiency; Lennart Hammarstrom; Chapter 29: Introduction to syndromes of immune dysregulation and autoimmunity; Hans D. Ochs, Jennifer M. Puck; Chapter 30: Autoimmune Lymphoproliferative Syndrome (ALPS); Thomas A. Fleisher,Frederic Rieux-Laucat, Jennifer M. Puck; Chapter 31: Autoimmune Polyglandular Syndrome Type 1; Maureen A. Su, and Mark S. Anderson; Chapter 32: Immune Dysregulation, Polyendocrinopathy, Enteropathy, and X-Linked Inheritance; Troy R. Torgerson, Eleonora Gambineri, Steven F. Ziegler, and Hans D. Ochs; Chapter 33: Recurrent Fever Syndromes; Lori Broderick, Daniel L. Kastner, Hal M. Hoffman; Chapter 34: Introduction to Innate immunity and syndromic primary immunodeficiency disorders; Jean-Laurent Casanova; Chapter 35: Inherited Disorders of the Interleukin- 12/23-Interferon Gamma Circuit; Steven M. Holland and Jean-Laurent Casanova; Chapter 36: Inborn errors of NF-kB immunity: genetic, immunological and clinical heterogeneity; Capucine Picard, Jordan S Orange, Anne Puel, Shen-Ying Zhang and Jean-Laurent Casanova; Chapter 37: Cartilage-Hair Hypoplasia; Outi Makitie; Chapter 38: Hyper-IgE Recurrent Infection Syndromes; Alexandra F Freeman, Bodo Grimbacher, Karin R Engelhardt, Steven Holland, and Jennifer M Puck; Chapter 39: Hepatic Veno-Occlusive Disease with Immunodeficiency (VODI); Tony Roscioli, Melanie Wong; Chapter 40: WHIM Syndrome; George A. Diaz; Chapter 41: Pulmonary alveolar proteinosis; Luigi D. Notarangelo; Chapter 42: Role of TMC6 and TMC8 genes and EVER proteins in epidermodysplasia verruciformis; Maciej Lazarczyk, Patricia Cassonnet, Michel Favre; Chapter 43: Wiskott-Aldrich Syndrome; Hans D. Ochs and Luigi D. Notarangelo; Chapter 44: X-Linked Lymphoproliferative Diseases; Volker Schuster and Sylvain Latour; Chapter 45: DiGeorge Syndrome: A Chromosome 22q11. 2 Deletion Syndrome; Deborah A. Driscoll and Kathleen E. Sullivan; Chapter 46: Introduction to Disorders associated with DNA repair and methylation defects; Mark O'Driscoll and Penny A. Jeggo; Chapter 47: Ataxia-Telangiectasia; Leman Yel, Martin F. Lavin and Yosef Shiloh; Chapter 48: Chromosomal Instability Syndromes Other Than Ataxia-Telangiectasia; Rolf-Dieter Wegner, James J. German, Krystyna H. Chrzanowska, Martin Digweed, and Markus Stumm; Chapter 49: Immunodeficiency with Centromere Instability and Facial Anomalies (ICF syndrome); R. Scott Hansen,Corry M.R. Weemaes,Silvere M. van der Maarel; Chapter 50: Introduction to Granulocyte Disorders; Karl Welte Cornelia Zeidler and David C. Dale; Chapter 51: Severe congenital neutropenia; Christoph Klein; Chapter 52: Chronic Granulomatous Disease; Dirk Roos, Steven M. Holland and Taco W. Kuijpers; Chapter 53: Cell Adhesion and Leukocyte Adhesion Defects; Amos Etzioni, Ronen Alon; Chapter 54: Inherited Hemophagocytic lymphohistiocytosis Syndromes (HLH); Genevieve De Saint Basile; Chapter 55: Genetically determined deficiencies of complement components; Kathleen E. Sullivan and Jerry A Winkelstein; PART III. ASSESSMENT AND TREATMENT OF PRIMARY IMMUNODEFICIENCIES; ; Chapter 56: Assessment of the Immune System; Francisco A. Bonilla, and Klaus Warnatz; Chapter 57: Genetic Aspects of Primary Immunodeficiencies; Jennifer M. Puck; Chapter 58: Immunodeficiency Information Resources; Crina Samarghitean, Jouni Valiaho, Mauno Vihinen, Docent; Chapter 59: Conventional Therapy of Primary Immunodeficiency Diseases; E. Richard Stiehm and Helen M. Chapel; Chapter 60: Bone Marrow Transplantation for Primary Immunodeficiency Diseases; Rebecca H. Buckley, Despina Moshous; Chapter 61: Gene Therapy; Fabio Candotti, Alain Fischer $ $ $ http://ukcatalogue.oup.com/product/9780195389838.do $ $ $ $ MJCJ; MJCM; MJW; MFN; MJM; MJF $ Infectious & contagious diseases; Immunology; Paediatric medicine; Medical genetics; Rheumatology; Haematology