Primary Immunodeficiency Diseases A Molecular and Genetic Approach

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

• ISBN13: 9780195104868
• ISBN10: 0195104862
• Format: Hardcover
• Copyright: 1998-11-12
• 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, an icreased 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 combined immunodeficiency. 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 the complex immunologic networks responsible for protecting individuals from these disorders.

Table of Contents

Contributors	xi
Part I Overview	3	(96)
1. Genetically Determined Immunodeficiency Diseases: A Perspective	3	(9)
C.I. Edvard Smith
Hans D. Ochs
Jennifer M. Puck
2. Genetic Principles and Technologies in the Study of Immune Disorders	12	(11)
Jennifer M. Puck
Robert L. Nussbaum
3. Mammalian Hematopoietic Development and Function	23	(11)
Gerald J. Sprangrude
4. T Cell Development	34	(21)
Rae S. M. Yeung
Josef M. Penninger
Tak W. Mak
5. Molecular Mechanisms Guiding B Cell Development	55	(11)
Antonius Rolink
Jan Andersson
Paolo Ghia
Ulf Grawunder
Christian Kalberer
Hajime Karasuyama
Yoshihiro Oka
Edwin ten Boekel
Thomas H. Winkler
Fritz Melchers
6. Signal Transduction by T and B Lymphocyte Antigen Receptors	66	(16)
Arthur Weiss
Anthony L. DeFranco
7. Phagocytic System	82	(17)
Kuender D. Yang
Paul G. Quie
Harry R. Hill
Part II Syndromes	99	(320)
8. X-linked Severe Combined Immunodeficiency	99	(12)
Jennifer M. Puck
9. Severe Combined Immune Deficiency Due to Defects of JAK3 Tyrosine Kinase	111	(10)
Fabio Candotti
Anna Villa
Luigi D. Notarangelo
10. Immunodeficiency Disease Due to Deficiency of Adenosine Deaminase	121	(19)
Rochelle Hirschhorn
11. Immunodeficiency Disease Due to Deficiency of Purine Nucleoside Phosphorylase	140	(6)
William R.A. Osborne
Hans D. Ochs
12. SCID Resulting from Mutations in the Gene Encoding the Protein Tyrosine Kinase ZAP-70	146	(9)
Melissa E. Elder
Arthur Weiss
13. Recombination Defects	155	(12)
Klaus Schwarz
Luigi D. Notarangelo
Eugenia Spanopoulou
Paolo Vezzoni
Anna Villa
14. Molecular Basis of Major Histocompatibility Complex Class II Deficiency	167	(14)
Walter Reith
Viktor Steimle
Barbara Lisowska-Grospierre
Alain Fischer
Bernard Mach
15. HLA Class I Deficiencies	181	(8)
Henri de la Salle
Lionel Donato
Jaques Zimmer
Alessandro Plebani
Daniel Hanau
Marc Bonneville
Marie-Marthe Tongio
16. CD3 Deficiencies	189	(9)
Jose R. Regueiro
Alberto Pacheco
David Alvarez-Zapata
Alfredo Corell
Ji-Yao Sun
Ruth Millan
Antonio Arnaiz-Villena
17. DiGeorge Syndrome: A Chromosome 22q11.2 Deletion Syndrome	198	(11)
Deborah A. Driscoll
Kathleen E. Sullivan
18. Inherited Interferon Gamma-Receptor Deficiency	209	(13)
Jean-Laurent Casanova
Melanie Newport
Alain Fischer
Michael Levin
19. X-Linked Lymphoproliferative Disease	222	(11)
Volker Schuster
Hans Wolfgang Kreth
20. CD40 Ligand and the Hyper-IgM Syndrome	233	(17)
Narayanaswamy Ramesh
Raif S. Geha
Luigi D. Notarangelo
21. Genetic Approach to Common Variable Immunodeficiency and IgA Deficiency	250	(13)
Lennart Hammarstrom
C.I. Edvard Smith
22. X-Linked Agammaglobulinemia: A Disease of Btk Tyrosine Kinase	263	(22)
C.I. Edvard Smith
Owen N. Witte
23. Autosomal Recessive Agammaglobulinemia	285	(7)
Mary Ellen Conley
24. The Wiskott-Aldrich Syndrome	292	(14)
Hans D. Ochs
Fred S. Rosen
25. Ataxia-Telangiectasia	306	(18)
Martin F. Lavin
Yosef Shiloh
26. Ataxia-Telangiectasia Variants (Nijmegen Breakage Syndrome)	324	(11)
Rolf-Dieter Wegner
Krystyna H. Chrzanowska
Karl Sperling
Markus Stumm
27. The Immunodeficiency of Bloom Syndrome	335	(4)
James German
28. Inherited Disorders with Autoimmunity and Defective Lymphocyte Regulation	339	(14)
Jennifer M. Puck
Stephen E. Straus
Francoise Le Deist
Frederic Rieux-Laucat
Alain Fischer
29. Chronic Granulomatous Disease	353	(22)
Dirk Roos
John T. Curnutte
30. Cell Adhesion and Leukocyte Adhesion Defects	375	(14)
Amos Etzioni
John M. Harlan
31. Chediak-Higashi Syndrome	389	(8)
Richard A. Spritz
32. Genetically Determined Deficiencies of the Complement System	397	(22)
Kathleen E. Sullivan
Jerry A. Winkelstein
Part III Assessment and Treatment	419	(72)
33. Assessment of the Immune System	419	(13)
Helen M. Chapel
A. David B. Webster
34. Genetic Aspects of Primary Immunodeficiencies	432	(11)
Jennifer M. Puck
35. Immunodeficiency Mutation Databases	443	(5)
Mauno Vihinen
Heikki Lehvaslaiho
Richard G.H. Cotton
36. Conventional Therapy of Primary Immunodeficiency Diseases	448	(11)
E. Richard Stiehm
37. Bone Marrow Transplantation for Primary Immunodeficiency Diseases	459	(17)
Rebecca H. Buckley
Alain Fischer
38. Gene Therapy	476	(15)
Fabio Candotti
R. Michael Blaese
Index	491