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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)
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author
publishing date
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
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
2013-06-28 14:33:13
date last changed
2017-01-01 04:22:25
@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 &gt; 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},
  keyword      = {immunodeficiencies,mutation registries,CpG dinucleotides,CGD,SCID,WAS,XHIM,XLA,XLT},
  language     = {eng},
  number       = {4},
  pages        = {261--267},
  publisher    = {John Wiley & Sons},
  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},
  volume       = {10},
  year         = {1997},
}