Efthimiou J, D'Cruz D, Kaplan P, Isenberg D
Ann Rheum Dis. 1986 May;45(5):428-30. doi: 10.1136/ard.45.5.428.
We describe a patient with myasthenia gravis, systemic lupus erythematosus, and angioedema associated with heterozygous complement factor 2 (C2) deficiency. The significance of this association is controversial, though the association of C2 deficiency with certain histocompatibility antigens suggests possible linkage to immune response genes. To our knowledge this is the first report of heterozygous C2 deficiency in association with this combination of 'autoimmune' disorders, and we discuss the aetiological implications.
我们描述了一名患有重症肌无力、系统性红斑狼疮以及与杂合性补体因子2(C2)缺乏相关的血管性水肿的患者。尽管C2缺乏与某些组织相容性抗原的关联提示可能与免疫反应基因存在联系,但其这种关联的意义仍存在争议。据我们所知,这是首例关于杂合性C2缺乏与这种“自身免疫性”疾病组合相关的报告,我们将讨论其病因学意义。