Article

Neonatal onset inflammatory bowel disease and immunodeficiency due to compound heterozygous variants in RIPK1: Expanding the phenotypic spectrum and literature review

2025-04-01

Abstract excerpt

<title>Abstract</title> <p>Receptor-interacting serine/threonine-protein kinase 1 (RIPK1) is a key regulator of apoptosis, necroptosis, and inflammation. Over the last decades, the function of RIPK1 has been extensively studied in mouse models. But the phenotype associated with RIPK1 deficiency in humans was unknown until 2018. Pathogenic RIPK1 variants have been described as the cause of two different inborn err...

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Literature Corpus work: fe976ba4-a2ab-5e3f-961f-ef3f4be8ea7f
DOI: 10.21203/rs.3.rs-6212184/v1

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