HUMAN C1 INHIBITOR IN PATIENTS WITH ANGIONEUROTIC EDEMA

遗传性C4缺乏症患者可能患有严重的狼疮 红斑 1例遗传性血管神经性水肿（HANE）患者， 系统性红斑狼疮（SLE）有慢性C4缺乏症， C1抑制剂的遗传性缺乏使她血清中的C1 激活，然后激活C4。 有人试图修复 C4缺乏症以及C1抑制剂缺乏症， 输注人C1-抑制剂，希望诱导两者的缓解 HANE和SLE。 在治疗期间，C1-抑制剂抗体在 患者;停止输注时清除。 在随后的 单用达那唑治疗，可测量的C1-抑制剂在 患者的血清中，但C4的水平从未显着增加。 预期患者不会产生正常C1抑制剂抗体 因为她是常染色体显性遗传的杂合子 正常 同种异型（瓦尔或MET 458），可能存在于所用制剂中 但病人不能合成因为她只能合成一种 同种异型（MET 458），似乎具有免疫原性。 述抗体 从患者血清中分离的C1-抑制剂与正常人血清中的C1-抑制剂反应。 已知为458-瓦尔纯合个体，但不是来自 MET 458纯合子。

Patients with hereditary C4 deficiency are likely to have severe lupus erythematosus. A patient with hereditary angioneurotic edema (HANE) and systemic lupus erythematosus (SLE) had a chronic deficiency in C4 because the hereditary deficiency in C1-inhibitor allowed the C1 in her serum to become activated and then inactivate C4. An attempt was made to repair the C4 deficiency as well as the deficiency in C1-inhibitor by giving infusions of human C1-inhibitor in the hope of inducing remissions of both HANE and SLE. During treatment, antibody to C1-inhibitor developed in the patient; this cleared when the infusions were stopped. During subsequent treatment with danazol alone, measurable C1-inhibitor developed in the patient's serum, but levels of C4 were never significantly increased. Antibody to normal C1-inhibitor was not expected to develop in the patient because she is heterozygous for this autosomal dominant trait. A normal allotype (VAL or MET 458), which would have been in the preparation used but which the patient does not synthesize because she can produce only one allotype (MET 458), appears to have been immunogenic. The antibody isolated from the patient's serum reacted with C1-inhibitor from a normal individual known to be homozygous for 458-VAL, but not with one from a homozygote for MET 458.