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Article

Novel XIAP mutation causing enhanced spontaneous apoptosis and disturbed NOD2 signalling in a patient with atypical adult-onset Crohn's disease.

Cell death & disease - 8 Jun 2020

Parackova Zuzana, Milota Tomas, Vrabcova Petra, Smetanova Jitka, Svaton Michael, Freiberger Tomas, Kanderova Veronika, Sediva Anna

Abstract excerpt

X-linked inhibitor of apoptosis (XIAP) is the most potent human inhibitor of apoptosis, and is also involved in NOD2-dependent NFκB and MAPK signalling cascade activation. The absence or defective function of XIAP leads to the development of a rare and severe primary immunodeficiency known as X-linked lymphoproliferative syndrome type 2 (XLP-2), which is characterized by a triad of clinical manifestations,...

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Identifiers

PMID: 32514016
DOI: 10.1038/s41419-020-2652-4
PMCID: PMC7280281

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Novel XIAP mutation causing enhanced spontaneous apoptosis and disturbed NOD2 signalling in a patient with atypical adult-onset Crohn's disease.PMID 32514016Read ↗

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