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Primary Immunodeficiency Diseases 3/e
A Molecular and Cellular Approach
Author:Ochs H.D.
Publisher:Oxford University Press
ISBN:9780195389838
Pages:864
Product: type:Book
Topic:Basic Sciences & Research » Immunology » Clinical immunology
Publication date:December 2013
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 prophylactic anti-infective measures to hematopoietic stem cell transplantation and gene therapy — this volume will remain an authoritative resource on this increasingly important area.
Hans D. Ochs,, Professor of Pediatrics, University of Washington and Seattle Children's Research Institute, USA, C. I. Edvard Smith,, Professor of Molecular Genetics, Karolinska Institutet, Stockholm, Sweden, and Jennifer M. Puck,, Professor of Pediatrics and Medical Director of the Pediatric Clinical Research Center,, University of California, San Francisco, USA
CONTENTS
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 Zúñiga-Pflücker , 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 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 Hammarström
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 Mäkitie
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,Silvère 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)
Geneviève 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 Väliaho, 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
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