title: Genetics of IgA deficiency.
abstract: IgA deficiency is the most common humoral defect in man and results in an increased susceptibility to respiratory tract and gastrointestinal infections. Both clinical and genetic data support a close relationship with common variable immunodeficiency, a disease which involves not only IgA and IgG production, but also, in half of the patients, IgM. It is likely that the two disorders represent an allelic condition with a variable expression of a common gene defect which is thought to be involved in the regulation of immunoglobulin class switching. It is possible that a single, autosomally inherited gene with a limited penetrance is responsible for the development of both these defects.
authors.affiliation: Department of Medical Microbiology, Lund University, Sweden.
authors.forename: L
authors.initials: L
authors.lastname: Truedsson
authors.forename: B
authors.initials: B
authors.lastname: Baskin
authors.forename: Q
authors.initials: Q
authors.lastname: Pan
authors.forename: H
authors.initials: H
authors.lastname: Rabbani
authors.forename: I
authors.initials: I
authors.lastname: Vorĕchovský
authors.forename: C I
authors.initials: CI
authors.lastname: Smith
authors.forename: L
authors.initials: L
authors.lastname: Hammarström
mesh_terms: D005786:Gene Expression Regulation; D006801:Humans; D017098:IgA Deficiency / Q000235:genetics*; D017578:Immunoglobulin Class Switching / Q000235:genetics*