A syndrome of immunoglobulin A deficiency, diabetes mellitus, malabsorption, a common HLA haplotype. Immunologic and genetic studies of forty-three family members.
Three persons in a kindred of 43 had variable expression of a syndrome consisting of immunoglobulin A deficiency, diabetes mellitus, malabsorption, and a common HLA haplotype. Findings from the proband included life-threatening malabsorption; idiopathic intestinal mucosal atrophy with infalmmation; IgA deficiency and antibodies to multiple endocrine organs; insulin-dependent diabetes mellitus; and the major histocomptability antigens HLA-A2, B8, and DW3. In addition to the described syndrome other conditions present in the family include Graves' disease, vitiligo, hypocomplementemia, rheumatic fever, multiple sclerosis, and a high frequency of antibodies to endocrine tissue. Since Graves' disease, diabetes mellitus, and idiopathic Addison's disease have all been described in association with HLS-B8 and DW3, we believe that the occurrence of these diseases in this family suggests that a single immune response gene or gene complex is linked with HLA-B8 and DW3.
D000224:Addison Disease; D000293:Adolescent; D000328:Adult; D003165:Complement System Proteins / Q000172:deficiency; D003920:Diabetes Mellitus / Q000235:genetics / Q000276:immunology*; D004406:Dysgammaglobulinemia / Q000235:genetics / Q000276:immunology*; D005260:Female; D006111:Graves Disease; D006680:HLA Antigens; D006649:Histocompatibility Antigens; D006801:Humans; D007070:Immunoglobulin A; D007153:Immunologic Deficiency Syndromes / Q000276:immunology*; D008286:Malabsorption Syndromes / Q000235:genetics / Q000276:immunology*; D008297:Male; D009103:Multiple Sclerosis; D010375:Pedigree; D012213:Rheumatic Fever; D013577:Syndrome; D014820:Vitiligo
D006680:HLA Antigens; D006649:Histocompatibility Antigens; D007070:Immunoglobulin A; D003165:Complement System Proteins