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DOI | 10.1126/science.aar2641 |
Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation | |
Cuchet-Lourenco, Delphine1; Eletto, Davide1; Wu, Changxin1,13; Plagnol, Vincent2; Papapietro, Olivier1; Curtis, James1; Ceron-Gutierrez, Lourdes3; Bacon, Chris M.4,5; Hackett, Scott6; Alsaleem, Badr7; Maes, Mailis1; Gaspar, Miguel1; Alisaac, Ali1,8; Goss, Emma1; AlIdrissi, Eman9; Siegmund, Daniela10; Wajant, Harald10; Kumararatne, Dinakantha3; AlZahrani, Mofareh S.9; Arkwright, Peter D.11; Abinun, Mario12; Doffinger, Rainer3; Nejentsev, Sergey1 | |
2018-08-24 | |
发表期刊 | SCIENCE
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ISSN | 0036-8075 |
EISSN | 1095-9203 |
出版年 | 2018 |
卷号 | 361期号:6404页码:810-813 |
文章类型 | Article |
语种 | 英语 |
国家 | England; Saudi Arabia; Germany; Peoples R China |
英文摘要 | RIPK1 (receptor-interacting serine/threonine kinase 1) is a master regulator of signaling pathways leading to inflammation and cell death and is of medical interest as a drug target. We report four patients from three unrelated families with complete RIPK1 deficiency caused by rare homozygous mutations. The patients suffered from recurrent infections, early-onset inflammatory bowel disease, and progressive polyarthritis. They had immunodeficiency with lymphopenia and altered production of various cytokines revealed by whole-blood assays. In vitro, RIPK1-deficient cells showed impaired mitogen-activated protein kinase activation and cytokine secretion and were prone to necroptosis. Hematopoietic stem cell transplantation reversed cytokine production defects and resolved clinical symptoms in one patient. Thus, RIPK1 plays a critical role in the human immune system. |
领域 | 地球科学 ; 气候变化 ; 资源环境 |
收录类别 | SCI-E |
WOS记录号 | WOS:000442828700048 |
WOS关键词 | NF-KAPPA-B ; CELL-DEATH ; BOWEL-DISEASE ; PROTEIN-KINASE ; NECROPTOSIS ; APOPTOSIS ; NECROSIS ; HOMEOSTASIS ; ACTIVATION ; RECEPTOR |
WOS类目 | Multidisciplinary Sciences |
WOS研究方向 | Science & Technology - Other Topics |
引用统计 | |
文献类型 | 期刊论文 |
条目标识符 | http://119.78.100.173/C666/handle/2XK7JSWQ/199434 |
专题 | 地球科学 资源环境科学 气候变化 |
作者单位 | 1.Univ Cambridge, Dept Med, Cambridge CB2 0QQ, England; 2.UCL, Genet Inst, London, England; 3.Addenbrookes Hosp, Dept Clin Biochem & Immunol, Cambridge, England; 4.Newcastle Univ, Northern Inst Canc Res, Newcastle Upon Tyne, Tyne & Wear, England; 5.Newcastle Upon Tyne Hosp NHS Fdn Trust, Dept Cellular Pathol, Newcastle Upon Tyne, Tyne & Wear, England; 6.Birmingham Heartland Hosp, Paediat Immunol Dept, Birmingham, W Midlands, England; 7.King Saud bin Abdulaziz Univ Hlth Sci, King Fahad Med City, Childrens Hosp, Riyadh, Saudi Arabia; 8.Albaha Univ, Fac Appl Med Sci, Albaha, Saudi Arabia; 9.Univ King Saud Hlth Sci, King Fahad Med City, Childrens Hosp, Riyadh, Saudi Arabia; 10.Univ Hosp Wurzburg, Dept Internal Med 2, Div Mol Internal Med, Wurzburg, Germany; 11.Univ Manchester, Royal Manchester Childrens Hosp, Manchester, Lancs, England; 12.Newcastle Univ, Inst Cellular Med, Primary Immunodeficiency Grp, Newcastle Upon Tyne, Tyne & Wear, England; 13.Shanxi Univ, Inst Biomed Sci IBMS, Taiyuan, Shanxi, Peoples R China |
推荐引用方式 GB/T 7714 | Cuchet-Lourenco, Delphine,Eletto, Davide,Wu, Changxin,et al. Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation[J]. SCIENCE,2018,361(6404):810-813. |
APA | Cuchet-Lourenco, Delphine.,Eletto, Davide.,Wu, Changxin.,Plagnol, Vincent.,Papapietro, Olivier.,...&Nejentsev, Sergey.(2018).Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation.SCIENCE,361(6404),810-813. |
MLA | Cuchet-Lourenco, Delphine,et al."Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation".SCIENCE 361.6404(2018):810-813. |
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