Abatacept is effective in Chinese patients with LRBA and CTLA4 deficiency  

作　　者：Lu Yang Xiuhong Xue Xuemei Chen Junfeng Wu Xi Yang Li Xu Xuemei Tang Mo Wang Huawei Mao Xiaodong Zhao 

机构地区：[1]Chongqing Key Laboratory of Child Infection and Immunity,Children’s Hospital of Chongqing Medical University,Chongqing,400015,PR China [2]Department of Rheumatology and Immunology,Children’s Hospital of Chongqing Medical University,Chongqing,400015,PR China [3]Department of Internal Nephrology,Children’s Hospital of Chongqing Medical University,Chongqing,400015,PR China [4]Ministry of Education Key Laboratory of Child Development and Disorders,National Clinical Research Center for Child Health and Disorders(Chongqing),China International Science and Technology Cooperation Base of Child Development and Critical Disorders,Children’s Hospital of Chongqing Medical University,Chongqing,400015,PR China

出　　处：《Genes & Diseases》2021年第5期662-668,共7页基因与疾病（英文）

基　　金：This work was supported by the Research Fund for Outstanding Youth Scholar of Chongqing Talents[grant number CQYC201905003];Science and Technology Research Program of Chongqing Municipal Education Commission[grant number KJZD-M201800401];High-level Medical Reserved Personnel Training Project of Chongqing[grant number 2019181].

摘　　要：CTLA4 deficiency and LRBA deficiency are a group disorders of immune dysregula-tion that affect CTLA4 pathway.The patients mainly present with autoimmunity,antibody defi-ciency and recurrent infections.Here we reported three Chinese patients with LRBA and CTLA4 mutations.They all presented with chronic diarrhea,hypokalemia,organomegaly,recurrent in-fections,and hypogammaglobulinemia.Reduced Treg cells and increased percentage of circu-lating follicular helper T(cTfh)cells were revealed in these patients.Although steroid and immunoglobulin therapy were given,the enteropathy was persistent.Therefore,abatacept treatment was provided to these patients.They showed a marked improvement of enteropathy and gastrointestinal endoscopy showed alleviated inflammatory lesion and follicular hyperpla-sia.Furthermore,the frequency of cTfh cells was reduced after abatacept therapy.Taken together,targeted therapy with abatacept is a promising treatment modality for patients with LRBA and CTLA4 deficiency.The findings also suggest that the frequency of cTfh cells could serve as a marker for tracking disease activity and the response to abatacept therapy.

关 键 词：LRBA deficiency CTLA4 deficiency Target therapy ABATACEPT EFFICACY 

分 类 号：R394.2[医药卫生—医学遗传学]