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.
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/3852005
- author
- Korpi, M
; Valiaho, J
and Vihinen, Mauno
LU
- publishing date
- 2000
- 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
- 2016-04-01 17:04:58
- date last changed
- 2022-01-29 00:12:02
@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}},
}