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Article

An RTEL1 Mutation Links to Infantile-Onset Ulcerative Colitis and Severe Immunodeficiency.

Journal of clinical immunology - 1 Oct 2020

Ziv Alma, Werner Lael, Konnikova Liza, Awad Aya, Jeske Tim, Hastreiter Maximilian, Mitsialis Vanessa, Stauber Tali, Wall Sarah, Kotlarz Daniel, Klein Christoph, Snapper Scott B, Tzfati Yehuda, Weiss Batia, Somech Raz, Shouval Dror S

Abstract excerpt

PURPOSE: More than 50 different monogenic disorders causing inflammatory bowel disease (IBD) have been identified. Our goal was to characterize the clinical phenotype, genetic workup, and immunologic alterations in an Ashkenazi Jewish patient that presented during infancy with ulcerative colitis and unique clinical manifestations. METHODS: Immune workup and whole-exome sequencing were performed, along with Sanger...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Receptors, Antigen, T-Cell, alpha-beta

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Source

Identifiers

PMID: 32710398
DOI: 10.1007/s10875-020-00829-z

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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