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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Veröffentlicht in:Science
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2018
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Article
Online Zugang: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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