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Structure-function effects in primary immunodeficiencies

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Author

Summary, in English

Several immunodeficiency-related genes have been identified and a large number of mutations in these genes. Currently, a genetic defect has been determined in more than 2000 patients. Only recently has it become possible to address structure-function effects of these mutations in the corresponding proteins. The consequences of mutations in structure are discussed for Btk in X-linked agammaglobulinemia (XLA), Jak3 in T-B+ severe combined immunodeficiency (SCID), p47(phox) and p67(phox) in autosomal chronic granulomatous disease (CGD) and SH2D1 A in X-linked lymphoproliferatine disease (XLP). The experimental and homology modelling derived structures were used to analyze mechanisms related to these diseases.

Publishing year

2000

Language

English

Pages

226-232

Publication/Series

Scandinavian Journal of Immunology

Volume

52

Issue

3

Document type

Journal article review

Publisher

Wiley-Blackwell

Topic

  • Immunology in the medical area

Status

Published

ISBN/ISSN/Other

  • ISSN: 1365-3083