CTLA-4 gene mutation and multiple sclerosis: A case report and literature review
We reported a patient with autoimmunity (multiple sclerosis), immunodeficiency (hypogammaglobulinemia with severe infections), enteropathy (diarrhea with intestinal inflammation), splenomegaly, lymphadenopathy and lymphocytic infiltration of non-lymphoid organs (lung, gut and brain). The patient was...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2022-06-01
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| Series: | Journal of Microbiology, Immunology and Infection |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S168411822100236X |
| _version_ | 1817969703495139328 |
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| author | Ting-Wei Lin Ya-Chiao Hu Yao-Hsu Yang Yin-Hsiu Chien Ni-Chung Lee Hsin-Hui Yu Bor-Luen Chiang Li-Chieh Wang |
| author_facet | Ting-Wei Lin Ya-Chiao Hu Yao-Hsu Yang Yin-Hsiu Chien Ni-Chung Lee Hsin-Hui Yu Bor-Luen Chiang Li-Chieh Wang |
| author_sort | Ting-Wei Lin |
| collection | DOAJ |
| description | We reported a patient with autoimmunity (multiple sclerosis), immunodeficiency (hypogammaglobulinemia with severe infections), enteropathy (diarrhea with intestinal inflammation), splenomegaly, lymphadenopathy and lymphocytic infiltration of non-lymphoid organs (lung, gut and brain). The patient was found to have a heterozygous mutation in cytotoxic T lymphocyte antigen-4, and had excellent response to abatacept. |
| first_indexed | 2024-04-13T20:24:32Z |
| format | Article |
| id | doaj.art-40130c37e7684f4cbcf39547f0f4bff1 |
| institution | Directory Open Access Journal |
| issn | 1684-1182 |
| language | English |
| last_indexed | 2024-04-13T20:24:32Z |
| publishDate | 2022-06-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Journal of Microbiology, Immunology and Infection |
| spelling | doaj.art-40130c37e7684f4cbcf39547f0f4bff12022-12-22T02:31:25ZengElsevierJournal of Microbiology, Immunology and Infection1684-11822022-06-01553545548CTLA-4 gene mutation and multiple sclerosis: A case report and literature reviewTing-Wei Lin0Ya-Chiao Hu1Yao-Hsu Yang2Yin-Hsiu Chien3Ni-Chung Lee4Hsin-Hui Yu5Bor-Luen Chiang6Li-Chieh Wang7Department of Pediatrics, National Taiwan University Hospital, Taipei, TaiwanDepartment of Pediatrics, National Taiwan University Hospital, Taipei, TaiwanDepartment of Pediatrics, National Taiwan University Hospital, Taipei, TaiwanDepartment of Genetics, National Taiwan University Hospital, Taipei, TaiwanDepartment of Genetics, National Taiwan University Hospital, Taipei, TaiwanDepartment of Pediatrics, National Taiwan University Hospital, Taipei, TaiwanDepartment of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan; Department of Medical Research, National Taiwan University Hospital, Taipei, Taiwan; Graduate Institute of Clinical Medicine, College of Medicine, National Taiwan University, Taipei, TaiwanDepartment of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan; Corresponding author. Department of Pediatrics, National Taiwan University Hospital, No. 7, Chung-Shan South Road, Taipei, Taiwan, Republic of China (R.O.C). Fax: +886 2 23119087.We reported a patient with autoimmunity (multiple sclerosis), immunodeficiency (hypogammaglobulinemia with severe infections), enteropathy (diarrhea with intestinal inflammation), splenomegaly, lymphadenopathy and lymphocytic infiltration of non-lymphoid organs (lung, gut and brain). The patient was found to have a heterozygous mutation in cytotoxic T lymphocyte antigen-4, and had excellent response to abatacept.http://www.sciencedirect.com/science/article/pii/S168411822100236XAbataceptCytotoxic T lymphocyte antigen-4Multiple sclerosisPrimary immunodeficiency |
| spellingShingle | Ting-Wei Lin Ya-Chiao Hu Yao-Hsu Yang Yin-Hsiu Chien Ni-Chung Lee Hsin-Hui Yu Bor-Luen Chiang Li-Chieh Wang CTLA-4 gene mutation and multiple sclerosis: A case report and literature review Journal of Microbiology, Immunology and Infection Abatacept Cytotoxic T lymphocyte antigen-4 Multiple sclerosis Primary immunodeficiency |
| title | CTLA-4 gene mutation and multiple sclerosis: A case report and literature review |
| title_full | CTLA-4 gene mutation and multiple sclerosis: A case report and literature review |
| title_fullStr | CTLA-4 gene mutation and multiple sclerosis: A case report and literature review |
| title_full_unstemmed | CTLA-4 gene mutation and multiple sclerosis: A case report and literature review |
| title_short | CTLA-4 gene mutation and multiple sclerosis: A case report and literature review |
| title_sort | ctla 4 gene mutation and multiple sclerosis a case report and literature review |
| topic | Abatacept Cytotoxic T lymphocyte antigen-4 Multiple sclerosis Primary immunodeficiency |
| url | http://www.sciencedirect.com/science/article/pii/S168411822100236X |
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