Evidence map›Paper›PMID 42174291›Full record

ArticleJournal of clinical immunology2026

A Novel MSN Mutation Impairs CD4

Ke Zhu, Bijun Sun, Wenjun Zhang, Luyao Liu, Wenjie Wang, Chenghao Wang, Feifan Xiao, Qinhua Zhou, Xiaochuan Wang, Jinqiao Sun

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

Article in Journal of clinical 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.

0numbers the graph read from it
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0citing papers in PubMed
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1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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

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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

10 authors.

Ke Zhu *National Children Medical Center, Department of Clinical Immunology, Children's Hospital of Fudan University, Shanghai, 201102, China.
Bijun Sun *National Children Medical Center, Department of Clinical Immunology, Children's Hospital of Fudan University, Shanghai, 201102, China.
Wenjun ZhangNational Children Medical Center, Department of Clinical Immunology, Children's Hospital of Fudan University, Shanghai, 201102, China.
Luyao LiuNational Children Medical Center, Department of Clinical Immunology, Children's Hospital of Fudan University, Shanghai, 201102, China.
Wenjie WangNational Children Medical Center, Department of Clinical Immunology, Children's Hospital of Fudan University, Shanghai, 201102, China.
Chenghao WangNational Children Medical Center, Department of Clinical Immunology, Children's Hospital of Fudan University, Shanghai, 201102, China.
Feifan XiaoNational Children Medical Center, Department of Clinical Immunology, Children's Hospital of Fudan University, Shanghai, 201102, China.
Qinhua ZhouNational Children Medical Center, Department of Clinical Immunology, Children's Hospital of Fudan University, Shanghai, 201102, China.
Xiaochuan WangNational Children Medical Center, Department of Clinical Immunology, Children's Hospital of Fudan University, Shanghai, 201102, China.
Jinqiao SunNational Children Medical Center, Department of Clinical Immunology, Children's Hospital of Fudan University, Shanghai, 201102, China. jinqiaosun@fudan.edu.cn.

Funding

National Natural Science Foundation of China 92574107Shanghai Municipal Health Commission Talent Program 2022XD024
6 · The paper itself

Abstract

purposeTo report a patient with a novel MSN mutation causing X-linked moesin-associated immunodeficiency (X-MAID) and investigate its pathogenic mechanisms.

methodsClinical and immunological data of the patient were collected. Autoantibody levels were measured using antigen microarrays. Whole-exome sequencing was performed to identify gene mutations. The stability of the mutant MSN protein was analyzed via transient transfection and cycloheximide chase assay in HEK293T cells. MSN protein expression, immunophenotyping, and T cell activation and apoptosis were assessed by flow cytometry.

resultsThe patient was a 2-year-old boy, presented with recurrent infections, Kawasaki disease, and early-onset broad-spectrum autoantibody production. A novel hemizygous MSN mutation (c.344T > C, p.I115T) was identified in the patient. The MSN p.I115T mutant showed reduced protein stability and decreased expression in multiple immune cell types. Immunophenotyping revealed follicular regulatory T (Tfr) cell reduction, Th1/Th17 imbalance, enhanced CD4

conclusionWe report a novel MSN mutation associated with recurrent infections, early-onset broad-spectrum autoantibody production, and Kawasaki disease. MSN deficiency may contribute to autoimmunity through Tfr cell reduction and Th1/Th17 imbalance.

Indexed as

AutoantibodiesCD4-Positive T-LymphocytesMutationCell DifferentiationChild, PreschoolHEK293 CellsHumansImmunophenotypingLymphocyte ActivationMaleAutoantibodiesAutoimmunityFollicular regulatory T cellMSN deficiencyTh1/Th17

Identifiers

PMID42174291
PMCPMC13391721

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