补体因子 I 基因变异可作为复发性无菌性中性粒细胞性脑膜炎的治疗原因：病例报告。
Complement Factor I Gene Variant as a Treatable Cause of Recurrent Aseptic Neutrophilic Meningitis: A Case Report.
机构信息
From the Weill Institute for Neurosciences (M.R., M.R.W.), Department of Neurology, University of California, San Francisco; Montreal Neurological Institute and Hospital (A.H.), Department of Neurology and Neurosurgery, McGill University, Montréal, QC, Canada; Department of Biochemistry and Biophysics (K.C.Z., A.T.); Department of Laboratory Medicine (C.O., C.Y.C.); Kaiser Permanente Santa Rosa Medical Center (K.K.)Department of Medicine (M.M.), Division of Rheumatology; Department of Medicine (A.B.), Molecular Medicine Consult Service; Department of Medicine (C.Y.C.), Division of Infectious Diseases, University of California, San Francisco; The Peter Doherty Institute for Infection and Immunity (P.S.R.); Department of Neurology (P.S.R.), Royal Melbourne Hospital; and Department of Neurology (P.S.R.), St.Vincent's Hospital, University of Melbourne, Australia.
出版信息
Neurol Neuroimmunol Neuroinflamm. 2023 Jun 20;10(5). doi: 10.1212/NXI.0000000000200121. Print 2023 Sep.
Mutations in the complement factor I () gene have previously been identified as causes of recurrent CNS inflammation. We present a case of a 26-year-old man with 18 episodes of recurrent meningitis, who had a variant in (c.859G>A,p.Gly287Arg) not previously associated with neurologic manifestations. He achieved remission with canakinumab, a human monoclonal antibody targeted at interleukin-1 beta.
先前已有研究发现，补体因子 I () 基因突变可导致中枢神经系统炎症反复发作。我们报告了一例 26 岁男性，反复发作性脑膜炎 18 次，携带此前与神经表现无关的 () 基因变异（c.859G>A，p.Gly287Arg）。他使用靶向白细胞介素-1β的人源单克隆抗体卡那单抗后达到缓解。
Zotero 插件