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Article

Type I Interferonopathy due to a Homozygous Loss-of-Inhibitory Function Mutation in STAT2.

Journal of clinical immunology - 1 May 2023

Zhu Gaofeng, Badonyi Mihaly, Franklin Lina, Seabra Luis, Rice Gillian I, Anne-Boland-Auge, Deleuze Jean-François, El-Chehadeh Salima, Anheim Mathieu, de Saint-Martin Anne, Pellegrini Sandra, Marsh Joseph A, Crow Yanick J, El-Daher Marie-Therese

Abstract excerpt

PURPOSE: STAT2 is both an effector and negative regulator of type I interferon (IFN-I) signalling. We describe the characterization of a novel homozygous missense STAT2 substitution in a patient with a type I interferonopathy. METHODS: Whole-genome sequencing (WGS) was used to identify the genetic basis of disease in a patient with features of enhanced IFN-I signalling. After stable lentiviral reconstitution of...

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Identifiers

PMID: 36753016
DOI: 10.1007/s10875-023-01445-3
PMCID: PMC10110676

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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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