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Structure-function effects in primary immunodeficiencies

Korpi, M; Valiaho, J and Vihinen, Mauno LU (2000) In Scandinavian Journal of Immunology 52(3). p.226-232
Abstract
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.
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author
publishing date
type
Contribution to journal
publication status
published
subject
in
Scandinavian Journal of Immunology
volume
52
issue
3
pages
226 - 232
publisher
Wiley-Blackwell
external identifiers
  • wos:000088805900002
  • scopus:0033863075
ISSN
1365-3083
language
English
LU publication?
no
id
362fa99f-0bda-46a7-898e-25a0ae532da0 (old id 3852005)
date added to LUP
2013-06-28 15:29:24
date last changed
2017-01-01 07:23:41
@article{362fa99f-0bda-46a7-898e-25a0ae532da0,
  abstract     = {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.},
  author       = {Korpi, M and Valiaho, J and Vihinen, Mauno},
  issn         = {1365-3083},
  language     = {eng},
  number       = {3},
  pages        = {226--232},
  publisher    = {Wiley-Blackwell},
  series       = {Scandinavian Journal of Immunology},
  title        = {Structure-function effects in primary immunodeficiencies},
  volume       = {52},
  year         = {2000},
}