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Article

Impaired IFN-γ-mediated innate and adaptive immunity in Coffin-Siris syndrome type 2: immunological insights from a patient with a recurrent ARID1A mutation.

Frontiers in immunology - 1 Jan 2026

Peng Qi, Yang Yi, Zhang Yaozhong, Li Siping, Zhong Baimao, Luo Qingming, Lu Xiaomei

Abstract excerpt

Background: Coffin-Siris syndrome type 2 (CSS2), caused by ARID1A mutations, is characterized by neurodevelopmental delay and recurrent infections. The ARID1A p.Ala1077Glu variant has been linked to CSS2, but the immune mechanisms underlying infection susceptibility remain poorly understood. Methods: The variant was identified by trio-based whole-exome sequencing and confirmed by Sanger sequencing. Immune status...

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Source

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Identifiers

PMID: 42495632
DOI: 10.3389/fimmu.2026.1803570
PMCID: PMC13391312

Genes

ARID1A
CXCL9
IFNG
STAT1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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