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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Bibliografiset tiedot
Julkaisussa:Science
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2018
Aiheet:
Article
Linkit: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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