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

doi:10.1126/science.aar2641

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Article

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

Science (New York, N.Y.) - 24 Aug 2018

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

Abstract excerpt

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...

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Identifiers

PMID: 30026316
DOI: 10.1126/science.aar2641
PMCID: PMC6529353

Genes

RIPK1

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