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Article

RIPK1 mutations causing infantile-onset IBD with inflammatory and fistulizing features.

Frontiers in immunology - 1 Jan 2022

Sultan Mutaz, Adawi Mohammad, Kol Nitzan, McCourt Blake, Adawi Ihda, Baram Liran, Tal Noa, Werner Lael, Lev Atar, Snapper Scott B, Barel Ortal, Konnikova Liza, Somech Raz, Shouval Dror S

Abstract excerpt

Purpose: Receptor-interacting serine/threonine-protein kinase 1 (RIPK1) is an important regulator of necroptosis and inflammatory responses. We present the clinical features, genetic analysis and immune work-up of two patients with infantile-onset inflammatory bowel disease (IBD) resulting from RIPK1mutations. Methods: Whole exome and Sanger sequencing was performed in two IBD patients. Mass cytometry time of...

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Identifiers

PMID: 36466854
DOI: 10.3389/fimmu.2022.1041315
PMCID: PMC9716469

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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