Primary Immunodeficiency Diseases: A Molecular & Cellular Approach / Edition 2

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Overview

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.

The book contains predominantly black-and-white illustrations, with some color illustrations.

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Editorial Reviews

From the Publisher
"This latest edition of Primary Immunodeficiency Diseases emphasized the molecular bases of these disorders, but there are also thorough discussions of their clinical aspects, and these will make the book an important addition to the library of any physician who treats patietns with primary immunodeficiencies."—New England Journal of Medicine
New England Journal of Medicine
Most of our current understanding of how the human immune system functions has been derived from the lessons learned from patients with these rare disorders. With this exciting and useful book as a guide, the interested reader will be well informed as to the current clinical state of affairs and the biologic advances that will continue to be made by studying these diseases.
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Product Details

  • ISBN-13: 9780195147742
  • Publisher: Oxford University Press, USA
  • Publication date: 8/24/2006
  • Edition description: REV
  • Edition number: 2
  • Pages: 776
  • Product dimensions: 11.00 (w) x 8.80 (h) x 2.10 (d)

Table of Contents

1. Genetically Determined Immunodeficiency Diseases: A Perspective, C.I. Edward Smith, Hans D. Ochs, and Jennifer M. Puck
2. Genetic Principles and Technologies in the Study of Immune Disorders, Jennifer M. Puck and Robert L. Nussbaum
3. Mammalian Hematopoietic Development and Function, Gerald J. Sprangrude
4. T-Cell Development, Rae S. M. Yeung, Josef M. Penninger, and Tak W. Mak
5. Molecular Mechanisms Guiding B-Cell Development, Antonius Rolink, Jan Andersson, Ulf Grawunder, and Fritz Melchers
6. Signal Transduction by T and B Lymphocyte Antigen Receptors, Neetu Gupta, Anthony L. DeFranco, and Arthur Weiss
7. Regulation of Lymphocyte Responses, Cell Trafficking and Lymphoid Organ Development, Sirpa Jalkanen and Marko Salmi
8. The Phagocytic System, Kuender D. Yang, Anthony Segal, Harry R. Hill
Part II Syndromes.
9. X-linked Severe Combined Immunodeficiency, Jennifer M. Puck
10. Autosomal Recessive SCID Due to Defects of Cytokine Signaling Pathways, Fabio Candotti and Luigi Notarangelo
11. Recombination Defects, Anna Villa, Klaus Schwarz, and , J.P. Villartay
12. Immunodeficiency Due to Defects of Purine Metabolism, Rochelle Hirschhorn, Fabio Candotti
13. CD45 Deficiency, Markku Heikinheimo and Talal Chatila
14. SCID Due to Defects in T-Cell-Receptor-Associated Protein Kinases, Melissa E. Elder
15. Human Interleukin-2 Receptor Alpha Deficiency, Chaim M. Roifman
16. CD3 and CD8 Deficiencies, Jose R. Regueiro Teresa Espanol et al.
17. Molecular Basis of Major Histocompatibility Complex Class II Deficiency, Walter Reith, Barbara Lisowska-Grospierre, and Alain Fischer
18. Peptide Transporter Defects in HLA Class I Deficiency, Henri de la Salle, Lionel Donato, Daniel Hanau, and Marie-Marthe Tongio
19. CD40, CD40 Ligand, and theHyper-IgM Syndrome, Raif S. Geha, Alessandro, and Luigi Notarangelo
20. Autosomal Hyper-IgM Syndromes Caused by an Intrinsic B-cell Defect, Anne Durandy, Patrick Revy, and Alain Fischer
21. X-linked Agammaglobulinemia: A Defect of Btk Tyrosine Kinase, C.I. Edvard Smith and Owen N. Witte
22. Autosomal Recessive Agammaglobulinemia, Mary Ellen Conley
23. Genetic Approach to Common Variable Immunodeficiency and IgA Deficiency, Lennart Hammarstrm and C.I. Edvard Smith
24. Defects in Apoptosis with Autoimmune Manifestations, Jennifer M. Puck, Stephen E. Straus, Francoise Le Deist, Frederic Rieux-Laucat
25. Autoimmune Polyendocrinopathy, Candidiasis and Ectodermal Dystrophy (APECED), Leena Peltonen, Maria Halonen, and Jaakko Perheentupa
26. Immune Dysregulation, Polyendocrinopathy, Enteropathy; X-linked (IPEX), Hans D. Ochs, Mary E. Brunkow, and Steve Siegler
27. Periodic Fever Syndromes, Daniel Kastner, Susannah Brydges, and Keith M. Hull
28. Inherited Disorders of the Interleukin-12/23-Interferon Gamma Axis, Melanie Newport, Steve Holland, Michael Levin, and Jean-Laurent Casanova
29. Ataxia-Telangiectasia, Martin F. Lavin and Yosef Shiloh
30. DNA Breakage and Repair Associated Syndromes Other Than Ataxia-Telangiectasia, Karl Sperling, Markus Stumm, James German, Fanconi expert (e.g. Johnson Liu/French woman/Dutch)
31. The Wiskott-Aldrich Syndrome, Hans D. Ochs, Fred S. Rosen
32. X-linked Lymphoproliferative Disease (XLP) due to Defects of SH2D1A, Volker Schuster and Cox Terhorst
33. DiGeorge Syndrome: A Chromosome 22q11.2 Deletion Syndrome, Deborah A. Driscoll and Kathleen E. Sullivan
34. Hyper IgE Recurrent Infection Syndromes, Bodo Grimbacher and Stevn M. Holland
35. Immunodeficiency with Centromere Instability and Facial Anomalies, Scott Hansen, Corry Weemaes, and Cisca Wijmenga
36. Immunodeficiencies with Associated Manifestations of Skin, Hair, Teeth, and Skeleton, Mario Abinun, Ilkka Kaitila and Jean-Laurent Casanova
37. Chronic Granulomatous Disease, Dirk Roos, Taco W. Kuijpers, and John T. Curnutte
38. Cell Adhesion and Leukocyte Adhesion Defects, Amos Etzioni and John M. Harlan
39. Cyclic and Congenital Neutropenia Due to Defects in Neutrophil Elastase, David Dale and Andrew Aprikyan
40. Chediak-Higashi Syndrome, Richard A. Spritz
41. Inherited Hemophagocytic Syndromes, Genevive de Saint Basile
42. Genetically Determined Deficiencies of the Complement System, Kathleen E. Sullivan and Jerry A. Winkelstein
Part III Assessment and Treatment.
43. Assessment of the Immune System, Helen M. Chapel, Siraj Misbah, and David Webster
44. Genetic Aspects of Primary Immunodeficiencies, Jennifer M. Puck
45. Immunodeficiency Information Systems, Jouni Valiaho, Crina Samarghitean, Hilkka Piirila, Marianne Pusa, and Mauno Vihinen
46. Conventional Therapy of Primary Immunodeficiency Diseases, E. Richard Stiehm and Helen M. Chapel
47. Bone Marrow Transplantation for Primary Immunodeficiency Diseases, Rebecca H. Buckley and Alain Fischer
48. Gene Therapy, Fabio Candotti and Alain Fischer

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