Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis and intestinal inflammation

Receptor Interacting Serine/Threonine Kinase 1 (RIPK1) is a master regulator of signaling pathways leading to inflammation and cell death and is of medical interest as a drug target. Here, we report four patients from three unrelated families with complete RIPK1 deficiency caused by rare homozygous...

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שמור ב:
מידע ביבליוגרפי
הוצא לאור ב:Science
Main Authors: Cuchet-Lourenço, Delphine, Eletto, Davide, Wu, Changxin, Plagnol, Vincent, Papapietro, Olivier, Curtis, James, Ceron-Gutierrez, Lourdes, Bacon, Chris M., Hackett, Scott, Alsaleem, Badr, Maes, Mailis, Gaspar, Miguel, Alisaac, Ali, Goss, Emma, AlIdrissi, Eman, Siegmund, Daniela, Wajant, Harald, Kumararatne, Dinakantha, AlZahrani, Mofareh S., Arkwright, Peter D., Abinun, Mario, Doffinger, Rainer, Nejentsev, Sergey
פורמט: Artigo
שפה:Inglês
יצא לאור: 2018
נושאים:
Article
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC6529353/
https://ncbi.nlm.nih.gov/pubmed/30026316
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/science.aar2641
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