Research Progress in Diseases Caused by STAT1 Gain-of-Function Mutations
Signal transduction and activator of transcription factor 1(STAT1), one of the important members of the STAT family, is a key cytoplasmic transcription factor and an important component of the JAK-STAT signaling pathway. Gain-of-function mutations in STAT1 (STAT1-GOF) impaired the dephosphorylation...
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| Format: | Article |
| Language: | zho |
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Editorial Office of Journal of Rare Diseases
2024-10-01
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| Series: | 罕见病研究 |
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| Online Access: | https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2024.04.004 |
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| author | LI Linpeng MA Jing GU Hao SHU Zhou MAO Huawei |
| author_facet | LI Linpeng MA Jing GU Hao SHU Zhou MAO Huawei |
| author_sort | LI Linpeng |
| collection | DOAJ |
| description | Signal transduction and activator of transcription factor 1(STAT1), one of the important members of the STAT family, is a key cytoplasmic transcription factor and an important component of the JAK-STAT signaling pathway. Gain-of-function mutations in STAT1 (STAT1-GOF) impaired the dephosphorylation of STAT1 protein, mediated the enhancement of cell signaling pathways such as type Ⅰ, Ⅱ, and Ⅲ interferon(IFN) and interleukins-27 (IL-27), IL-6, IL-10, and IL-17, and inhibited Th17 cells. The clinical manifestations of STAT1-GOF are diverse, including chronic mucocutaneous candidiasis and autoimmune diseases. For the treatment of STAT1-GOF, such as targeted therapy with ruxolitinib for STAT1 hyperphosphorylation, immunomodulatory therapy and hematopoietic stem cell transplantation for different self-immune systems, certain curative effects can be obtained. With the understanding of disease mechanisms and the discovery of new clinical phenotypes, this review focuses on the diseases caused by gain-of-function mutations of STAT1, and introduces the clinical manifestations and treatment progress of STAT1-GOF to promote the understanding of such diseases and their future diagnosis, treatment and research works. |
| format | Article |
| id | doaj-art-9769298101cc4567920830f05b10647b |
| institution | Kabale University |
| issn | 2097-0501 |
| language | zho |
| publishDate | 2024-10-01 |
| publisher | Editorial Office of Journal of Rare Diseases |
| record_format | Article |
| series | 罕见病研究 |
| spelling | doaj-art-9769298101cc4567920830f05b10647b2025-01-08T05:18:58ZzhoEditorial Office of Journal of Rare Diseases罕见病研究2097-05012024-10-013443143710.12376/j.issn.2097-0501.2024.04.004Research Progress in Diseases Caused by STAT1 Gain-of-Function MutationsLI LinpengMA JingGU Hao0SHU Zhou1MAO HuaweiDepartment of Immunology, National Center for Children′s Health, Beijing Children′s Hospital, Capital Medical University, Beijing 100045, ChinaDepartment of Immunology, National Center for Children′s Health, Beijing Children′s Hospital, Capital Medical University, Beijing 100045, ChinaSignal transduction and activator of transcription factor 1(STAT1), one of the important members of the STAT family, is a key cytoplasmic transcription factor and an important component of the JAK-STAT signaling pathway. Gain-of-function mutations in STAT1 (STAT1-GOF) impaired the dephosphorylation of STAT1 protein, mediated the enhancement of cell signaling pathways such as type Ⅰ, Ⅱ, and Ⅲ interferon(IFN) and interleukins-27 (IL-27), IL-6, IL-10, and IL-17, and inhibited Th17 cells. The clinical manifestations of STAT1-GOF are diverse, including chronic mucocutaneous candidiasis and autoimmune diseases. For the treatment of STAT1-GOF, such as targeted therapy with ruxolitinib for STAT1 hyperphosphorylation, immunomodulatory therapy and hematopoietic stem cell transplantation for different self-immune systems, certain curative effects can be obtained. With the understanding of disease mechanisms and the discovery of new clinical phenotypes, this review focuses on the diseases caused by gain-of-function mutations of STAT1, and introduces the clinical manifestations and treatment progress of STAT1-GOF to promote the understanding of such diseases and their future diagnosis, treatment and research works.https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2024.04.004primary immunodeficiency diseasestat1 gain-of-function mutationschronic mucocutaneous candidiasisth17 cells |
| spellingShingle | LI Linpeng MA Jing GU Hao SHU Zhou MAO Huawei Research Progress in Diseases Caused by STAT1 Gain-of-Function Mutations 罕见病研究 primary immunodeficiency disease stat1 gain-of-function mutations chronic mucocutaneous candidiasis th17 cells |
| title | Research Progress in Diseases Caused by STAT1 Gain-of-Function Mutations |
| title_full | Research Progress in Diseases Caused by STAT1 Gain-of-Function Mutations |
| title_fullStr | Research Progress in Diseases Caused by STAT1 Gain-of-Function Mutations |
| title_full_unstemmed | Research Progress in Diseases Caused by STAT1 Gain-of-Function Mutations |
| title_short | Research Progress in Diseases Caused by STAT1 Gain-of-Function Mutations |
| title_sort | research progress in diseases caused by stat1 gain of function mutations |
| topic | primary immunodeficiency disease stat1 gain-of-function mutations chronic mucocutaneous candidiasis th17 cells |
| url | https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2024.04.004 |
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