Abatacept is effective in Chinese patients with LRBA and CTLA4 deficiency

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

doi:10.1016/j.gendis.2020.03.001

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Abatacept is effective in Chinese patients with LRBA and CTLA4 deficiency

Full-length article | 更新时间：2022-06-24

- Abatacept is effective in Chinese patients with LRBA and CTLA4 deficiency
- Abatacept is effective in Chinese patients with LRBA and CTLA4 deficiency
- Genes & Diseases 2021年8卷第5期
- 作者机构：
  
  1. Chongqing Key Laboratory of Child Infection and Immunity, Children's Hospital of Chongqing Medical University,Chongqing,PR China,400015
  2. 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,PR China,400015
  3. Department of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University,Chongqing,PR China,400015
  4. Department of Internal Nephrology, Children's Hospital of Chongqing Medical University,Chongqing,PR China,400015
- 作者简介：
- 基金信息：
- DOI：10.1016/j.gendis.2020.03.001
  中图分类号：
- 纸质出版日期：2021，
  
  网络出版日期：2021-9-1，
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Lu Yang, Xiuhong Xue, Xuemei Chen, 等. Abatacept is effective in Chinese patients with LRBA and CTLA4 deficiency[J]. Genes & Diseases, 2021,8(5).

Lu Yang, Xiuhong Xue, Xuemei Chen, et al. Abatacept is effective in Chinese patients with LRBA and CTLA4 deficiency[J]. Genes & Diseases, 2021,8(5).
Lu Yang, Xiuhong Xue, Xuemei Chen, 等. Abatacept is effective in Chinese patients with LRBA and CTLA4 deficiency[J]. Genes & Diseases, 2021,8(5). DOI： 10.1016/j.gendis.2020.03.001.

Lu Yang, Xiuhong Xue, Xuemei Chen, et al. Abatacept is effective in Chinese patients with LRBA and CTLA4 deficiency[J]. Genes & Diseases, 2021,8(5). DOI： 10.1016/j.gendis.2020.03.001.

摘要

Abstract

CTLA4 deficiency and LRBA deficiency are a group disorders of immune dysregulation that affect CTLA4 pathway. The patients mainly present with autoimmunity

antibody deficiency and recurrent infections. Here we reported three Chinese patients with

LRBA

and

CTLA4

mutations. They all presented with chronic diarrhea

hypokalemia

organomegaly

recurrent infections

and hypogammaglobulinemia. Reduced Treg cells and increased percentage of circulating 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 hyperplasia. 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

Keywords

LRBA deficiencyCTLA4 deficiencyTarget therapyAbataceptEfficacy

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