GSTDTAP  > 地球科学
DOI10.1126/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
ISSN0036-8075
EISSN1095-9203
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
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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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