Registries of immunodeficiency patients and mutations
Lappalainen, I ; Ollila, J ; Smith, CIE and Vihinen, Mauno LU
(1997)
In Human Mutation
10(4).
p.261-267
- Abstract
- Immunodeficiencies form a distinct group of human hereditary diseases with several rare disorders. During recent years, information has been collected concerning immunodeficiency patients and mutations causing disorders. The large European (ESID) registry contains clinical data for some 7,000 patients. At present, international mutation databases have information for > 1,000 immunodeficiency patients, including X-linked chronic granulomatous disease (XCGD), Wiskott Aldrich syndrome (WAS), and X-linked thrombocytopenia (XLT), X-linked hyper-IgM syndrome (XHIM), X-linked agammaglobulinemia (XLA), and X-linked severe combined immunodeficiency (XSCID). The databases are available on Internet. The mutation spectra of patients in these... (More)
- Immunodeficiencies form a distinct group of human hereditary diseases with several rare disorders. During recent years, information has been collected concerning immunodeficiency patients and mutations causing disorders. The large European (ESID) registry contains clinical data for some 7,000 patients. At present, international mutation databases have information for > 1,000 immunodeficiency patients, including X-linked chronic granulomatous disease (XCGD), Wiskott Aldrich syndrome (WAS), and X-linked thrombocytopenia (XLT), X-linked hyper-IgM syndrome (XHIM), X-linked agammaglobulinemia (XLA), and X-linked severe combined immunodeficiency (XSCID). The databases are available on Internet. The mutation spectra of patients in these registries were compared. Mutational hotspots were found in CpG dinucleotides with a preference for selected flanking bases. (C) 1997 Wiley-Liss, Inc. (Less)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/3852871
- author
- Lappalainen, I
; Ollila, J
; Smith, CIE
and Vihinen, Mauno
LU
- publishing date
- 1997
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- immunodeficiencies, mutation registries, CpG dinucleotides, CGD, SCID, WAS, XHIM, XLA, XLT
- in
- Human Mutation
- volume
- 10
- issue
- 4
- pages
- 261 - 267
- publisher
- John Wiley & Sons Inc.
- external identifiers
-
- wos:A1997XY07300001
- scopus:0030924024
- ISSN
- 1059-7794
- DOI
- 10.1002/(SICI)1098-1004(1997)10:4<261::AID-HUMU1>3.0.CO;2-K
- language
- English
- LU publication?
- no
- id
- e82ba10e-55b0-466e-9259-b31751c88834 (old id 3852871)
- date added to LUP
- 2016-04-01 11:36:56
- date last changed
- 2022-01-26 07:37:35
@article{e82ba10e-55b0-466e-9259-b31751c88834,
abstract = {{Immunodeficiencies form a distinct group of human hereditary diseases with several rare disorders. During recent years, information has been collected concerning immunodeficiency patients and mutations causing disorders. The large European (ESID) registry contains clinical data for some 7,000 patients. At present, international mutation databases have information for > 1,000 immunodeficiency patients, including X-linked chronic granulomatous disease (XCGD), Wiskott Aldrich syndrome (WAS), and X-linked thrombocytopenia (XLT), X-linked hyper-IgM syndrome (XHIM), X-linked agammaglobulinemia (XLA), and X-linked severe combined immunodeficiency (XSCID). The databases are available on Internet. The mutation spectra of patients in these registries were compared. Mutational hotspots were found in CpG dinucleotides with a preference for selected flanking bases. (C) 1997 Wiley-Liss, Inc.}},
author = {{Lappalainen, I and Ollila, J and Smith, CIE and Vihinen, Mauno}},
issn = {{1059-7794}},
keywords = {{immunodeficiencies; mutation registries; CpG dinucleotides; CGD; SCID; WAS; XHIM; XLA; XLT}},
language = {{eng}},
number = {{4}},
pages = {{261--267}},
publisher = {{John Wiley & Sons Inc.}},
series = {{Human Mutation}},
title = {{Registries of immunodeficiency patients and mutations}},
url = {{http://dx.doi.org/10.1002/(SICI)1098-1004(1997)10:4<261::AID-HUMU1>3.0.CO;2-K}},
doi = {{10.1002/(SICI)1098-1004(1997)10:4<261::AID-HUMU1>3.0.CO;2-K}},
volume = {{10}},
year = {{1997}},
}