Article
Primary immunodeficiency mutation databases.
Advances in genetics - 1 Jan 2001
Vihinen M, Arredondo-Vega F X, Casanova J L, Etzioni A, Giliani S, Hammarström L, Hershfield M S, Heyworth P G, Hsu A P, Lähdesmäki A, Lappalainen I, Notarangelo L D, Puck J M, Reith W, Roos D, Schumacher R F, Schwarz K, Vezzoni P, Villa A, Väliaho J, Smith C I
Abstract excerpt
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...
Topics
- Alleles
- Chromosome Mapping
- CpG Islands
- Databases, Factual
- Genotype
- Humans
- Immunologic Deficiency Syndromes
- Models, Genetic
- Mutation
- Mutation, Missense