Title: Mapping genes underlying complex disorders: progress on IgA deficiency and common variable immunodeficiency
Abstract: IgA deficiency (IgAD, MIM 137100) is the most frequent primary immunodeficiency in humans (for review see Burrows and Cooper, 1997; Hammarstrom et al., 2000). It is characterized by the absence of IgA in serum and mucosal secretions due to an as yet unidentified defect of terminal lymphocyte differentiation. Affected individuals may suffer from susceptibility to infections and autoimmune complications. While IgAD is defined by a laboratory measurement and is usually asymptomatic, common variable immunodeficiency (CVID, MIM 240500) is characterized clinically by overt susceptibility to infections and by frequent inflammatory and autoimmune symptomatology. In addition to the lack of IgA, CVID patients have decreased levels of additional isotypes in serum.
Publication Year: 2001
Publication Date: 2001-01-01
Language: en
Type: review
Indexed In: ['crossref', 'pubmed']
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Cited By Count: 5
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