Primary Immunodeficiency Diseases: A Molecular and Cellular Approach - Rilegato

Rilegato

ISBN 10: 0195389832 ISBN 13: 9780195389838

Casa editrice: OUP USA, 2013

Riassunto

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.

Su questo libro

L'autore:

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.

Contenuti:

• 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 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

Su questa edizione

• Editore: OUP USA
• Data di pubblicazione: 2013
• ISBN 10: 0195389832
• ISBN 13: 9780195389838
• Rilegatura: Copertina rigida
• Numero edizione: 3
• Numero di pagine: 930
• Redattore: Ochs Hans D., Smith C. I. Edvard, Puck Jennifer M.