Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation
Delphine Cuchet-Lourenço, Davide Eletto, Changxin Wu, Vincent Plagnol et autres
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 …
gb, sa, de (code pays fourni par la source)
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