Primary Immunodeficiency Diseases

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).