Primary Immunodeficiency Diseases A Molecular and Genetic Approach

by Ochs, MD, Dr.med, Hans D.; Smith, PhD, C. I. Edvard; Puck, MD, Jennifer M.

• ISBN13: 9780195389838
• ISBN10: 0195389832
• Edition: 3rd
• Format: Hardcover
• Copyright: 2013-11-29
• Publisher: Oxford University Press

Summary

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.

Table of Contents

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