Primary immunodeficiency diseases : a molecular and genetic approach

著者

    • Ochs, Hans D.
    • Smith, Edvard
    • Puck, Jennifer

書誌事項

Primary immunodeficiency diseases : a molecular and genetic approach

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

Oxford University Press, c1999

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注記

Includes bibliographical references and index

内容説明・目次

内容説明

This text reviews present understanding of immunology, genetics, and molecular biology, focusing on each of the genetically determined primary immunodeficiency disorders. Leading contributors are drawn from three fields, and each syndrome is addressed from both molecular and clinical points of view to bridge the gap between basic and clinical science. The book should appeal to geneticists, immunologists, allergists, infectious disease specialists, haematologists/oncologists, and molecular biologists involved in the study of lymphocytes and haematopoietic stem cell derivatives.

目次

  • Part I Overview: Ochs, Smith, Puck, molecular approaches to primary immune disoders
  • Puck, genetics
  • Sprangrude, mammalian haematopoietic development and function
  • Tak Mak, T cell development
  • Rolink, Andersson, Ghia, Grawunder, Kalberer, Karasuyama, Oka, Ten Boekel, Winkler, Melcher, molecular mechanisms guiding B cell development
  • Weiss, DeFranco, signal transduction
  • Yang, Hill, Quie, phagocytic system. Part II Syndromes: Puck, severe combined immune deficiency due to mutation of the IL-2R common gamma chain (X-SCID)
  • Candotti, Notarangelo, severe combined immune deficiency due to defects of the JAK3 tyrosine kinase
  • Hirschhorn, adenosine deaminase (ADA)
  • Osborne and Ochs, purine nucleoside phosphorylase (PNP) deficiencies
  • Elder, Weiss, SCID resulting from mutations of the protein tyrosine kinase ZAP 70
  • Schwarz, rag 1/2 deficiency
  • Reith, Steimle, Lisowska-Grospierre, Fischer, Mach, molecular basis of major histocompatibility complex class II deficiency
  • Reguieiro et al, Pacheco A, Alvarez-Zapata D, Corell A, Sun JY, Arnaiz-Villena A (Madrid), CD3 deficiencies
  • Driscoll, DiGeorge syndrome
  • Casanova, Newport, Fischer, Levin, inherited interferon-Y receptor deficiency
  • Schuster, Kreth, X-linked lymphoproliferative disease (XLP)
  • Remesh, Geha, Notarangelo, CD40L and the hyper IgM syndrome
  • Hammerstrom, Smith, genetic approach to CVI and IgA deficiency
  • Smith, Witte, BTK and XLA
  • Conley
  • Ochs, Rosen, the Wiskott-Aldrich syndrome
  • Lavin, Shiloh, ataxia-telangiectasia (A-T)
  • Wegner, Chrzanowska, Sperling, Stumm, NBS+Ligase
  • German, Bloom syndrome
  • Fischer, Puck, FAS deficiency
  • Roos, Curnutte, CGD
  • Etzioni, Harlan, Cell adhesion and leukocyte adhesion defects
  • Spritz. Chediak-Higashi syndrome
  • Sullivan, Winkelstein, genetically determined deficiencies of the complement system. Part III Assessment and treatment
  • Webster, Chapel, assessment of the immune system
  • Puck, Conley, assessment of genetic aspects of primary immunodeficiencies
  • Vihinen, Lehvaslaiho, Cotton, immunodeficiency mutation databases
  • Stiehm, conventional therapy of primary immunodeficiency diseases
  • Fischer, Buckley, BMT (including stem cells)
  • Candotti, Blaese, gene therapy (including foetal cells).

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