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

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Coffin-Siris syndrome type 2 (CSS2) is linked to ARID1A mutations, resulting in neurodevelopmental delays and increased infection susceptibility.
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The ARID1A p.Ala1077Glu variant was identified in a patient with CSS2, confirming its association with immune dysfunction.
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Immune profiling showed significant quantitative deficits in innate and adaptive immune cells, particularly NKT-like and CD8+ central memory T cells.
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Transcriptomic analysis revealed downregulation of effector immune genes and suppression of pathways reliant on IFN-γ signaling.
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The study suggests that impaired IFN-γ-mediated immunity may contribute to recurrent infections in patients with CSS2.

Frontiers In Immunology

by Qi Peng, Yi Yang, Yaozhong Zhang, Siping Li, Baimao Zhong, Qingming Luo, Xiaomei Lu
July 9, 2026

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