Abatacept is effective in Chinese patients with LRBA and CTLA4 deficiency
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 ch...
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KeAi Communications Co., Ltd.
2021-09-01
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| Series: | Genes and Diseases |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2352304220300350 |
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| author | Lu Yang Xiuhong Xue Xuemei Chen Junfeng Wu Xi Yang Li Xu Xuemei Tang Mo Wang Huawei Mao Xiaodong Zhao |
| author_facet | Lu Yang Xiuhong Xue Xuemei Chen Junfeng Wu Xi Yang Li Xu Xuemei Tang Mo Wang Huawei Mao Xiaodong Zhao |
| author_sort | Lu Yang |
| collection | DOAJ |
| description | 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. |
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| issn | 2352-3042 |
| language | English |
| last_indexed | 2024-03-12T19:49:33Z |
| publishDate | 2021-09-01 |
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| series | Genes and Diseases |
| spelling | doaj.art-d7e3ebccd78f46e0b47f1562d1402bed2023-08-02T03:20:05ZengKeAi Communications Co., Ltd.Genes and Diseases2352-30422021-09-0185662668Abatacept is effective in Chinese patients with LRBA and CTLA4 deficiencyLu Yang0Xiuhong Xue1Xuemei Chen2Junfeng Wu3Xi Yang4Li Xu5Xuemei Tang6Mo Wang7Huawei Mao8Xiaodong Zhao9Chongqing Key Laboratory of Child Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, 400015, PR China; 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 ChinaChongqing Key Laboratory of Child Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, 400015, PR China; 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 ChinaChongqing Key Laboratory of Child Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, 400015, PR China; 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 ChinaDepartment of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University, Chongqing, 400015, PR China; 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 ChinaDepartment of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University, Chongqing, 400015, PR China; 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 ChinaDepartment of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University, Chongqing, 400015, PR China; 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 ChinaDepartment of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University, Chongqing, 400015, PR China; 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 ChinaDepartment of Internal Nephrology, Children's Hospital of Chongqing Medical University, Chongqing, 400015, PR China; 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 ChinaChongqing Key Laboratory of Child Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, 400015, PR China; Department of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University, Chongqing, 400015, PR China; 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; Corresponding author. Department of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University, PR China. Fax: +86-23-63630602.Chongqing Key Laboratory of Child Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, 400015, PR China; Department of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University, Chongqing, 400015, PR China; 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; Corresponding author. Department of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University, PR China. Fax: +86-23-63602136.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.http://www.sciencedirect.com/science/article/pii/S2352304220300350LRBA deficiencyCTLA4 deficiencyTarget therapyAbataceptEfficacy |
| spellingShingle | Lu Yang Xiuhong Xue Xuemei Chen Junfeng Wu Xi Yang Li Xu Xuemei Tang Mo Wang Huawei Mao Xiaodong Zhao Abatacept is effective in Chinese patients with LRBA and CTLA4 deficiency Genes and Diseases LRBA deficiency CTLA4 deficiency Target therapy Abatacept Efficacy |
| title | Abatacept is effective in Chinese patients with LRBA and CTLA4 deficiency |
| title_full | Abatacept is effective in Chinese patients with LRBA and CTLA4 deficiency |
| title_fullStr | Abatacept is effective in Chinese patients with LRBA and CTLA4 deficiency |
| title_full_unstemmed | Abatacept is effective in Chinese patients with LRBA and CTLA4 deficiency |
| title_short | Abatacept is effective in Chinese patients with LRBA and CTLA4 deficiency |
| title_sort | abatacept is effective in chinese patients with lrba and ctla4 deficiency |
| topic | LRBA deficiency CTLA4 deficiency Target therapy Abatacept Efficacy |
| url | http://www.sciencedirect.com/science/article/pii/S2352304220300350 |
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