title: Registries of immunodeficiency patients and mutations.
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.
authors.affiliation: Department of Biosciences, University of Helsinki, Finland.
authors.forename: I
authors.initials: I
authors.lastname: Lappalainen
authors.forename: J
authors.initials: J
authors.lastname: Ollila
authors.forename: C I
authors.initials: CI
authors.lastname: Smith
authors.forename: M
authors.initials: M
authors.lastname: Vihinen
mesh_terms: D000486:Allergy and Immunology; D019992:Databases as Topic / Q000706:statistics & numerical data; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000453:epidemiology* / Q000235:genetics*; D009154:Mutation; D012042:Registries / Q000706:statistics & numerical data*; D009626:Terminology as Topic