A case of autoimmune enteropathy with CTLA4 haploinsufficiency
| Autor: | Ichiro Kobayashi, Michitaka Kohashi, Kazumoto Iijima, Akihiro Hoshino, Namiko Hoshi, Haruka Miyazaki, Haruka Takenaka, Yuna Ku, Noriyuki Nishimura, Keisuke Jimbo, Kohsuke Imai, Tsubasa Okano, Nobuyuki Yamamoto, Eri Tokunaga, Suguru Uemura, Hirokazu Kanegane, Makoto Ooi, Yuzo Kodama |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
6-Mercaptopurine
Regulatory T cell chemical and pharmacologic phenomena RC799-869 Autoimmune enteropathy medicine.disease_cause 03 medical and health sciences 0302 clinical medicine Medicine Enteropathy CTLA4 Case reports business.industry Gastroenterology Autoantibody FOXP3 CTLA4 Haploinsufficiency Diseases of the digestive system. Gastroenterology Immune dysregulation IPEX syndrome medicine.disease medicine.anatomical_structure 030220 oncology & carcinogenesis Immunology 030211 gastroenterology & hepatology business |
| Zdroj: | Intestinal Research, Vol 20, Iss 1, Pp 144-149 (2022) |
| ISSN: | 1598-9100 |
| Popis: | Autoimmune enteropathy (AIE) is a rare disease, characterized by intractable diarrhea, villous atrophy of the small intestine, and the presence of circulating anti-enterocyte autoantibodies. Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome, and mutations in FOXP3, which is a master gene of regulatory T cells (Tregs), are major causes of AIE. Recent studies have demonstrated that mutations in other Treg-associated genes, such as CD25 and CTLA4, show an IPEX-like phenotype. We present the case of a 13-year-old girl with CTLA4 haploinsufficiency, suffering from recurrent immune thrombocytopenic purpura and intractable diarrhea. We detected an autoantibody to the AIE-related 75 kDa antigen (AIE-75), a hallmark of the IPEX syndrome, in her serum. She responded well to a medium dose of prednisolone and a controlled dose of 6-mercaptopurine (6-MP), even after the cessation of prednisolone administration. Serum levels of the soluble interleukin-2 receptor and immunoglobulin G (IgG) were useful in monitoring disease activity during 6-MP therapy. In conclusion, autoimmune-mediated mechanisms, similar to the IPEX syndrome, may be involved in the development of enteropathy in CTLA4 haploinsufficiency. Treatment with 6-MP and monitoring of disease activity using serum levels of soluble interleukin-2 receptor and IgG is suggested for such cases. |
| Databáze: | OpenAIRE |
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