Genetic heterogeneity in autoimmune polyglandular failure.
Five cases with candidiasis-endocrinopathy syndrome are presented. They are clustered in three distantly related families with two pairs or affected sibs and one single case. All cases have idiopathic hypoparathyroidism, four have Addison's disease while chronic mucocutaneous candidiasis has appeared in three cases. The mode of presentation argues for an autosomal recessive inheritance. Varying degrees of defective cellular mediated immunity were found. HLA typings revealed no evidence for HLA linkage. These findings discriminate the syndrome as a distinct entity compared to other forms of autoimmune polyglandular failure with HLA-linked familial tendency.
D000224:Addison Disease / Q000235:genetics* / Q000276:immunology; D000328:Adult; D001327:Autoimmune Diseases / Q000235:genetics* / Q000276:immunology; D002177:Candidiasis / Q000235:genetics*; D002178:Candidiasis, Chronic Mucocutaneous / Q000235:genetics* / Q000276:immunology; D005260:Female; D005808:Genes, Recessive; D006680:HLA Antigens / Q000032:analysis; D006801:Humans; D007011:Hypoparathyroidism / Q000235:genetics* / Q000276:immunology; D007111:Immunity, Cellular; D008297:Male; D010375:Pedigree; D013548:Sweden; D013577:Syndrome
D006680:HLA Antigens