Primary Immunodeficiency Diseases A Molecular and Genetic Approach 3rd Edition by Hans D. Ochs MD Dr.med, C. I. Edvard Smith PhD, Jennifer M. Puck MD – Ebook PDF Instant Download/Delivery: 0195389832 978-0195389838
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Product details:
ISBN 10: 0195389832
ISBN 13: 978-0195389838
Author: Hans D. Ochs MD Dr.med, C. I. Edvard Smith PhD, Jennifer M. Puck MD
Table of 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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Hans Ochs MD Dr.med,Edvard Smith PhD,Jennifer Puck MD,Primary Immunodeficiency, A Molecular,Genetic Approach


