Primary Immunodeficiency Diseases A Molecular & Cellular Approach

by Ochs, Hans D.; Smith, C. I. Edward; Puck, Jennifer M.

• ISBN13: 9780195147742
• ISBN10: 019514774X
• Edition: 2nd
• Format: Hardcover
• Copyright: 2006-08-24
• Publisher: Oxford University Press

Summary

The second edition of Primary Immunodeficiency Diseases presents discussions of gene identification, mutation detection, and clinical and research applications for over 100 genetic immune disorders--disorders featuring an increased susceptibility to infections and, in certain conditions, anicreased rate of malignancies and autoimmune disorders. Since the publication of the first edition, a flurry of new disease entities has been defined and new treatment regimens have been introduced, the most spectacular being successful treatment by gene therapy for two genotypes of combinedimmunodeficiency. The first edition marked a historic turning point in the field of immunodeficiencies, demonstrating that many of the disorders of the immune systam could be understood at a molecular level. This new edition can proudly document the tremendous pace of progress in dissecting thecomplex immunologic networks responsible for protecting individuals from these disorders.

Table of Contents

Contributors	xiii
Part I Overview
Genetically Determined Immunodeficiency Diseases: A Perspective	3	(13)
C. I. Edvard Smith
Hans D. Ochs
Jennifer M. Puck
Genetic Principles and Technologies in the Study of Immune Disorders	16	(11)
Jennifer M. Puck
Robert L. Nussbaum
Mammalian Hematopoietic Development and Function	27	(12)
Gerald J. Spangrude
T Cell Development	39	(22)
Rae S. M. Yeung
Pamela S. Ohashi
Mary E. Saunders
Tak W. Mak
Molecular Mechanisms Guiding B Cell Development	61	(10)
Antonius G. Rolink
Jan Andersson
Ulf Grawunder
Fritz Melchers
Signal Transduction by T and B Lymphocyte Antigen Receptors	71	(22)
Neetu Gupta
Anthony L. DeFranco
Arthur Weiss
Lymphoid Organ Development, Cell Trafficking, and Lymphocyte Responses	93	(10)
Sirpa Jalkanen
Marko Salmi
Phagocytic System	103	(20)
Kuender D. Yang
Paul G. Quie
Harry R. Hill
Part II Syndromes
X-Linked Severe Combined Immunodeficiency	123	(14)
Jennifer M. Puck
Autosomal Recessive Severe Combined Immunodeficiency Due to Defects in Cytokine Signaling Pathways	137	(16)
Fabio Candotti
Luigi Notarangelo
V(D)J Recombination Defects	153	(16)
Jean-Pierre de Villartay
Klaus Schwarz
Anna Villa
Immunodeficiency Due to Defects of Purine Metabolism	169	(28)
Rochelle Hirschhorn
Fabio Candotti
Severe Combined Immunodeficiency Due to Mutations in the CD45 Gene	197	(6)
Talal A. Chatila
Markku Heikinheimo
Severe Combined Immunodeficiency Due to Defects in T Cell Receptor--Associated Protein Kinases	203	(9)
Melissa E. Elder
Human Interleukin-2 Receptor α Deficiency	212	(4)
Chaim M. Roifman
CD3 and CD8 Deficiencies	216	(11)
Jose R. Regueiro
Teresa Espanol
Molecular Basis of Major Histocompatibility Complex Class II Deficiency	227	(15)
Walter Reith
Barbara Lisowska-Grospierre
Alain Fischer
Peptide Transporter Defects in Human Leukocyte Antigen Class I Deficiency	242	(9)
Henri de la Salle
Lionel Donato
Daniel Hanau
CD40, CD40 Ligand, and the Hyper-IgM Syndrome	251	(18)
Raif S. Geha
Alessandro Plebani
Luigi D. Notarangelo
Autosomal Hyper-IgM Syndromes Caused by an Intrinsic B Cell Defect	269	(10)
Anne Durandy
Patrick Revy
Alain Fischer
X-linked Agammaglobulinemia: A Disease of Btk Tyrosine Kinase	279	(25)
C. I. Edvard Smith
Anne B. Satterthwaite
Owen N. Witte
Autosomal Recessive Agammaglobulinemia	304	(9)
Mary Ellen Conley
Genetic Approach to Common Variable Immunodeficiency and IgA Deficiency	313	(13)
Lennart Hammarstrom
C. I. Edvard Smith
Autoimmune Lymphoproliferative Syndrome	326	(16)
Jennifer M. Puck
Frederic Rieux-Laucat
Francoise Le Deist
Stephen E. Straus
Autoimmune Polyendocrinopathy, Candidiasis, Ectodermal Dystrophy	342	(13)
Leena Peltonen-Palotie
Maria Halonen
Jaakko Perheentupa
Immune Dysregulation, Polyendocrinopathy, Enteropathy, and X-Linked Inheritance	355	(12)
Troy R. Torgerson
Eleonora Gambineri
Steven F. Ziegler
Hans D. Ochs
Periodic Fever Syndromes	367	(23)
Daniel L. Kastner
Susannah Brydges
Keith M. Hull
Inherited Disorders of the Interleukin-12/23-Interferon Gamma Axis	390	(12)
Melanie J. Newport
Steven M. Holland
Michael Levin
Jean-Laurent Casanova
Ataxia-Telangiectasia	402	(25)
Martin F. Lavin
Yosef Shiloh
Chromosomal Instability Syndromes Other Than Ataxia-Telangiectasia	427	(27)
Rolf-Dieter Wegner
James J. German
Krystyna H. Chrzanowska
Martin Digweed
Markus Stumm
Wiskott-Aldrich Syndrome	454	(16)
Hans D. Ochs
Fred S. Rosen
X-Linked Lymphoproliferative Disease Due to Defects of SH2DIA	470	(15)
Volker Schuster
Cox Terhorst
DiGeorge Syndrome: A Chromosome 22q11.2 Deletion Syndrome	485	(11)
Deborah A. Driscoll
Kathleen E. Sullivan
Hyper-IgE Recurrent Infection Syndromes	496	(9)
Bodo Grimbacher
Jennifer M. Puck
Steven M. Holland
Immunodeficiency with Centromere Instability and Facial Anomalies	505	(8)
R. Scott Hansen
Corry Weemaes
Cisca Wijmenga
Immunodeficiencies with Associated Manifestations of Skin, Hair, Teeth, and Skeleton	513	(12)
Mario Abinun
Ilkka Kaitila
Jean-Laurent Casanova
Chronic Granulomatous Disease	525	(25)
Dirk Roos
Taco W. Kuijpers
John T. Curnutte
Cell Adhesion and Leukocyte Adhesion Defects	550	(15)
Amos Etzioni
John M. Harlan
Cyclic and Congenital Neutropenia Due to Defects in Neutrophil Elastase	565	(5)
David C. Dale
Andrew G. Aprikyan
Chediak-Higashi Syndrome	570	(8)
Richard A. Spritz
Inherited Hemophagocytic Syndromes	578	(11)
Genevieve de Saint Basile
Genetically Determined Deficiencies of the Complement System	589	(22)
Kathleen E. Sullivan
Jerry A. Winkelstein
Part III Assessment and Treatment
Assessment of the Immune System	611	(22)
Helen M. Chapel
Siraj Misbah
A. David B. Webster
Genetic Aspects of Primary Immunodeficiencies	633	(11)
Jennifer M. Puck
Immunodeficiency Information Services	644	(11)
Jouni Valiaho
Crina Samarghitean
Hilkka Piirila
Marianne Pusa
Mauno Vihinen
Conventional Therapy of Primary Immunodeficiency Diseases	655	(14)
E. Richard Stiehm
Helen M. Chapel
Bone Marrow Transplantation for Primary Immunodeficiency Diseases	669	(19)
Rebecca H. Buckley
Alain Fischer
Gene Therapy	688	(19)
Fabio Candotti
Alain Fischer
Index	707