title: Primary immunodeficiency mutation databases.
abstract: Primary immunodeficiencies are intrinsic defects of immune systems. Mutations in a large number of cellular functions can lead to impaired immune responses. More than 80 primary immunodeficiencies are known to date. During the last years genes for several of these disorders have been identified. Here, mutation information for 23 genes affected in 14 immunodefects is presented. The proteins produced are employed in widely diverse functions, such as signal transduction, cell surface receptors, nucleotide metabolism, gene diversification, transcription factors, and phagocytosis. Altogether, the genetic defect of 2,140 families has been determined. Diseases with X-chromosomal origin constitute about 70% of all the cases, presumably due to full penetrance and because the single affected allele causes the phenotype. All types of mutations have been identified; missense mutations are the most common mutation type, and truncation is the most common effect on the protein level. Mutational hotspots in many disorders appear in CPG dinucleotides. The mutation data for the majority of diseases are distributed on the Internet with a special database management system, MUTbase. Despite large numbers of mutations, it has not been possible to make genotype-phenotype correlations for many of the diseases.
authors.affiliation: Institute of Medical Technology, University of Tampere, Finland.
authors.forename: M
authors.initials: M
authors.lastname: Vihinen
authors.forename: F X
authors.initials: FX
authors.lastname: Arredondo-Vega
authors.forename: J L
authors.initials: JL
authors.lastname: Casanova
authors.forename: A
authors.initials: A
authors.lastname: Etzioni
authors.forename: S
authors.initials: S
authors.lastname: Giliani
authors.forename: L
authors.initials: L
authors.lastname: Hammarström
authors.forename: M S
authors.initials: MS
authors.lastname: Hershfield
authors.forename: P G
authors.initials: PG
authors.lastname: Heyworth
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authors.initials: AP
authors.lastname: Hsu
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authors.lastname: Lähdesmäki
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authors.lastname: Lappalainen
authors.forename: L D
authors.initials: LD
authors.lastname: Notarangelo
authors.forename: J M
authors.initials: JM
authors.lastname: Puck
authors.forename: W
authors.initials: W
authors.lastname: Reith
authors.forename: D
authors.initials: D
authors.lastname: Roos
authors.forename: R F
authors.initials: RF
authors.lastname: Schumacher
authors.forename: K
authors.initials: K
authors.lastname: Schwarz
authors.forename: P
authors.initials: P
authors.lastname: Vezzoni
authors.forename: A
authors.initials: A
authors.lastname: Villa
authors.forename: J
authors.initials: J
authors.lastname: Väliaho
authors.forename: C I
authors.initials: CI
authors.lastname: Smith
mesh_terms: D000483:Alleles; D002874:Chromosome Mapping; D018899:CpG Islands; D016208:Databases, Factual; D005838:Genotype; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D008957:Models, Genetic; D009154:Mutation; D020125:Mutation, Missense; D010641:Phenotype