Evidence map›Paper›PMID 42495632›Full record

ArticleFrontiers in immunology2026

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

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

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in immunology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0cells of the map it votes in
0citing papers in PubMed
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1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors.

Qi Peng *Laboratory Department, Dongguan Children's Hospital Affiliated to Guangdong Medical University, Dongguan, Guangdong, China.
Yi Yang *Department of Pediatrics, Dongguan Maternal and Child Health Care Hospital, Dongguan, Guangdong, China.
Yaozhong ZhangLaboratory Department, Dongguan Children's Hospital Affiliated to Guangdong Medical University, Dongguan, Guangdong, China.
Siping LiLaboratory Department, Dongguan Children's Hospital Affiliated to Guangdong Medical University, Dongguan, Guangdong, China.
Baimao ZhongDepartment of Medical and Molecular Genetics, Dongguan Institute of Pediatrics, Dongguan, Guangdong, China.
Qingming LuoDepartment of Pediatrics, Dongguan Maternal and Child Health Care Hospital, Dongguan, Guangdong, China.
Xiaomei LuLaboratory Department, Dongguan Children's Hospital Affiliated to Guangdong Medical University, Dongguan, Guangdong, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Coffin-Siris syndrome type 2 (CSS2), caused by Methods: The variant was identified by trio-based whole-exome sequencing and confirmed by Sanger sequencing. Immune status was assessed via serum immunoglobulins, complement measurements, and flow cytometric immunophenotyping. RNA sequencing was performed on PMA-stimulated PBMCs from the patient and healthy controls, with key findings validated by qRT-PCR and ELISA. Results: Immune profiling revealed widespread quantitative deficits across innate and adaptive compartments, with particularly marked reductions in NKT-like cells (CD3 Conclusion: Our findings suggest an association between the ARID1A p.Ala1077Glu variant and impaired IFN-γ-mediated immunity in CSS2, potentially contributing to recurrent infections. The IFN-γ pathway warrants further investigation as a therapeutic target.

Indexed as

Abnormalities, MultipleAdaptive ImmunityDNA-Binding ProteinsFaceHand Deformities, CongenitalImmunity, InnateIntellectual DisabilityInterferon-gammaMutationNeckTranscription FactorsChild, PreschoolFemaleHumansMaleMicrognathismARID1A protein, humanDNA-Binding ProteinsInterferon-gammaTranscription FactorsARID1Achromatin remodelingCoffin-Siris syndromeimmunodeficiencyinnate immunityinterferon-gammatranscriptional response

Identifiers

PMID42495632
PMCPMC13391312

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.