Inherited deficiency of second component of complement and HLA haplotype A10,B18 associated with inflammatory bowel disease.
A patient with inflammatory bowel disease and sacroiliitis had haplotypes A10,B18 and Aw32,b18 at the major histocompatibility locus. Serum total complement and C2 hemolytic complement activities were undetectable; levels of the remaining C1-C9 components were normal. The parents, both siblings, and a child each had half-normal levels of C2 and either the A10,B18 or the Aw32,b18 hla haplotype. In a second unrelated family, an only child and both parents developed inflammatory bowel disease. The father and child had HLA haplotype A10,B18, but, along with the mother, each had normal serum levels of hemolytic C and C2. Homozygous C2 deficiency, often in association with the A10,B18 haplotype, has previously been linked with various autoimmune diseases and with propensity to infection. Our findings suggest that C2 deficiency or this haplotype also may predispose to inflammatory diseases of the intestine.
D000328:Adult; D001168:Arthritis / Q000150:complications / Q000235:genetics; D003093:Colitis, Ulcerative / Q000150:complications / Q000276:immunology; D003175:Complement C2 / Q000172:deficiency*; D003424:Crohn Disease / Q000150:complications / Q000235:genetics / Q000276:immunology*; D005260:Female; D006680:HLA Antigens; D006650:Histocompatibility Testing; D006801:Humans; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D012446:Sacroiliac Joint
D003175:Complement C2; D006680:HLA Antigens