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Informationen zum Autor Hans D. Ochs, MD, Dr.med, is Professor of Pediatrics, University of Washington and Seattle Children's Research Institute, Seattle, WA.C. I. Edvard Smith, MD, PhD, is Professor of Molecular Genetics, Karolinska Institutet, Stockholm, Sweden.Jennifer M. Puck, MD, is Professor of Pediatrics and Medical Director of the Pediatric Clinical Research Center, University of California, San Francisco. Klappentext 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. Zusammenfassung 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. Inhaltsverzeichnis Foreword; Kurt and Rochelle Hirschhorn; Part I: OVERVIEW: INTRODUCTION, BASIC GENETICS, AND IMMUNOLOGY; ; Chapter 1: Genetically Determined Immunodeficiency Diseases: A Perspective; C.I. Edvard Smith, Hans D. Ochs and Jennifer M. Puck; Chapter 2: Genetic Principles and Technologies in the Study of Immune Disorders; Jennifer M. Puck and Robert L. Nussbaum; Chapter 3: Mammalian Hematopoietic Development and Function; Gerald J. Spangrude; Chapter 4: T Cell Development; Juan Carlos Zuniga-Pflucker , Rae Yeung, Pam Ohashi, Tak W Mak; Chapter 5: Molecular Mechanisms guiding B cell development; Antonius G. Rolink , Roxane Tussiwand; Chapter 6: Signal Transduction by T and B Lymphocyte Antigen Receptors; Anthony DeFranco and Arthur Weiss; Chapter 7: Lymphoid Organ Development, Cell Trafficking, and Lymphocyte Responses; Sirpa Jalkanen and Marko Salmi; Chapter 8: Innate Immunity; Jordan S. Orange, Michael M. Frank, Stuart E. Turvey; PART II. SYNDROMES; ; Chapter 9: Introduction to Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID); Jennifer M. Puck; Chapter 10: Severe Combined Immunodeficiency and Combined Immunodeficiency Due To Cytokine Signaling Defects (IL2RG, JAK3, IL7R, IL2RA, JAK3 and STAT5b); Jennifer M Puck, Fabio Candotti, Luigi Notarangelo, Chaim Roifman; Chapter 11: T cell receptor complex deficiency; Jose R. Regueiro and Maria J. Recio; Chapter 12: Severe Combined Immunodeficiency Due to Mutations in the CD45 Gene; Talala Chatila and Jennifer Puck; Chapter 13: V(D)J Recombination Defects; Jean-Pierre De Villartay ,Mirjam Van Der Burg ,Klaus Schwarz and Anna Villa; Chapter 14: Immunodeficiency Due to Defects of Purine Metabolism; Rochelle Hirschhorn, Eyal Grunebaum, Chaim Roifman, Fabio Candotti; Chapter 15: SCID due to Defects in T-Cell-Receptor-Associated Protein Kinases (ZAP-70 and Lck); Naomi Taylor and Melissa E. Elder; Chapter 16: Molecular Basis of Major Histocompatibility Complex Class II Deficiency; Walter Reith, Capucine Picard, 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 De...
