title: Increased prevalence of immunoglobulin A deficiency in patients with the chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).
abstract: We wished to determine the prevalence of immunoglobulin A (IgA) deficiency in patients with the chromosome 22q11.2 deletion syndrome. A total of 32 patients with the chromosome 22q11.2 deletion were examined for IgA deficiency. We report a 13% (n = 4) prevalence of IgA deficiency in patients with this syndrome. The odds ratio of IgA deficiency in this population is 14.20 (P < 0.0001). This confirms the occurrence of significant humoral deficits in this predominantly cellular immunodeficiency.
authors.affiliation: Division of Immunologic and Infectious Diseases, The Children's Hospital of Philadelphia, Pennsylvania 19104, USA.
authors.forename: C A
authors.initials: CA
authors.lastname: Smith
authors.forename: D A
authors.initials: DA
authors.lastname: Driscoll
authors.forename: B S
authors.initials: BS
authors.lastname: Emanuel
authors.forename: D M
authors.initials: DM
authors.lastname: McDonald-McGinn
authors.forename: E H
authors.initials: EH
authors.lastname: Zackai
authors.forename: K E
authors.initials: KE
authors.lastname: Sullivan
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000276:immunology*; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D003430:Cross-Sectional Studies; D004062:DiGeorge Syndrome / Q000235:genetics / Q000276:immunology*; D005260:Female; D005820:Genetic Testing; D006801:Humans; D017098:IgA Deficiency / Q000453:epidemiology*; D007070:Immunoglobulin A / Q000097:blood; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D016017:Odds Ratio; D015995:Prevalence
chemical_list: D007070:Immunoglobulin A