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Registries of immunodeficiency patients and mutations
Author(s) -
Lappalainen Ilkka,
Ollila Juha,
Smith C. I. Edvard,
Vihinen Mauno
Publication year - 1997
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1997)10:4<261::aid-humu1>3.0.co;2-k
Subject(s) - immunodeficiency , biology , severe combined immunodeficiency , hum , primary immunodeficiency , wiskott–aldrich syndrome , mutation , x linked agammaglobulinemia , chronic granulomatous disease , immunodeficiency syndrome , cpg site , disease , genetics , immunology , gene , medicine , bruton's tyrosine kinase , immune system , art , performance art , art history , signal transduction , gene expression , tyrosine kinase , dna methylation
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. Hum Mutat 10:261–267, 1997. © 1997 Wiley‐Liss, Inc.