Human inherited complete STAT2 deficiency underlies inflammatory viral diseases.

G, Bucciol; L, Moens; M, Ogishi; D, Rinchai; D, Matuozzo; M, Momenilandi; N, Kerrouche; CM, Cale; ER, Treffeisen; Salamah M, Al; BK, Al-Saud; A, Lachaux; R, Duclaux-Loras; M, Meignien; A, Bousfiha; I, Benhsaien; A, Shcherbina; A, Roppelt; F, Gothe; N, Houhou-Fidouh; SJ, Hackett; LM, Bartnikas; MC, Maciag; MF, Alosaimi; J, Chou; RW, Mohammed; BJ, Freij; E, Jouanguy; SY, Zhang; S, Boisson-Dupuis; V, Béziat; Q, Zhang; CJ, Duncan; S, Hambleton; JL, Casanova; I, Meyts

doi:10.1172/jci168321

Public

Human inherited complete STAT2 deficiency underlies inflammatory viral diseases.

Published in The Journal of clinical investigation • Jun 15, 2023

Authors:

Bucciol G

Moens L

Ogishi M

Abstract

STAT2 is a transcription factor activated by type I and III IFNs. We report 23 patients with loss-of-function variants causing autosomal recessive (AR) complete STAT2 deficiency. Both cells transfected with mutant STAT2 alleles and the patients' cells displayed impaired expression of IFN-stimulated ...

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Open Access

Subject

Influenza

Genetic diseases

immunology

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