Slade J D, Luskin A T, Gewurz H, Kraft S C, Kirsner J B, Zeitz H J
Ann Intern Med. 1978 Jun;88(6):796-8. doi: 10.7326/0003-4819-88-6-796.
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.
一名患有炎性肠病和骶髂关节炎的患者在主要组织相容性位点具有单倍型A10、B18和Aw32、b18。血清总补体和C2溶血补体活性检测不到；其余C1 - C9成分水平正常。父母、两个兄弟姐妹和一个孩子的C2水平均为正常水平的一半，且具有A10、B18或Aw32、b18 HLA单倍型。在另一个无亲缘关系的家庭中，独子及其父母均患炎性肠病。父亲和孩子具有HLA单倍型A10、B18，但母亲和他们一样，血清溶血C和C2水平均正常。纯合子C2缺乏症通常与A10、B18单倍型相关，此前已与多种自身免疫性疾病以及感染易感性相关联。我们的研究结果表明，C2缺乏或该单倍型也可能易患肠道炎性疾病。
