Evidence map›Paper›PMID 38922539›Full record

ArticleJournal of clinical immunology2024

Novel Mutation in the Moesin (MSN) Gene Leads to Immunodeficiency with Epstein-Barr Virus (EBV) Infection and Dermatomyositis-Like Symptoms.

Bijun Sun, Luyao Liu, Lingli Han, Qifan Li, Qi Wu, Jia Hou, Wenjie Wang, Wenjing Ying, Qinhua Zhou, Feng Qian and 3 more

Abstract readCase Reports
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In one paragraph

Article in Journal of clinical immunology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

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

1 citing paper in PubMed.

  1. A Novel MSN Mutation Impairs CD4Journal of clinical immunology · 2026
    Article
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

13 authors.

Bijun Sun *Department of Clinical Immunology, Children's Hospital of Fudan University, National Children Medical Center, 399 Wanyuan Road, Shanghai, 201102, China.
Luyao Liu *Department of Clinical Immunology, Children's Hospital of Fudan University, National Children Medical Center, 399 Wanyuan Road, Shanghai, 201102, China.
Lingli Han *Department of Clinical Immunology, Children's Hospital of Fudan University, National Children Medical Center, 399 Wanyuan Road, Shanghai, 201102, China.
Qifan LiDepartment of Clinical Immunology, Children's Hospital of Fudan University, National Children Medical Center, 399 Wanyuan Road, Shanghai, 201102, China.
Qi WuDepartment of Clinical Immunology, Children's Hospital of Fudan University, National Children Medical Center, 399 Wanyuan Road, Shanghai, 201102, China.
Jia HouDepartment of Clinical Immunology, Children's Hospital of Fudan University, National Children Medical Center, 399 Wanyuan Road, Shanghai, 201102, China.
Wenjie WangDepartment of Clinical Immunology, Children's Hospital of Fudan University, National Children Medical Center, 399 Wanyuan Road, Shanghai, 201102, China.
Wenjing YingDepartment of Clinical Immunology, Children's Hospital of Fudan University, National Children Medical Center, 399 Wanyuan Road, Shanghai, 201102, China.
Qinhua ZhouDepartment of Clinical Immunology, Children's Hospital of Fudan University, National Children Medical Center, 399 Wanyuan Road, Shanghai, 201102, China.
Feng QianMinistry of Education Key Laboratory of Contemporary Anthropology, Human Phenome Institute, School of Life Sciences, Fudan University, Shanghai, 200438, China.
Wei LuCAS Key Laboratory of Tissue Microenvironment and Tumor, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai, 200031, China. lvwei@sinh.ac.cn.
Xiaochuan WangDepartment of Clinical Immunology, Children's Hospital of Fudan University, National Children Medical Center, 399 Wanyuan Road, Shanghai, 201102, China. xchwang@shmu.edu.cn.
Jinqiao SunDepartment of Clinical Immunology, Children's Hospital of Fudan University, National Children Medical Center, 399 Wanyuan Road, Shanghai, 201102, China. jinqiaosun@fudan.edu.cn.

Funding

National Key R&D Program of China 2021YFC2701802"Sailing Program" of Shanghai Science and Technology Committee 23YF1403400Shanghai Municipal Health Commission Talent Program 2022XD024
6 · The paper itself

Abstract

purposeMoesin (MSN) deficiency is a recently reported combined immunodeficiency, and few cases have been reported to date. We describe a Chinese patient with a novel mutation causing MSN deficiency and a novel phenotype.

methodsClinical and immunological data were collected. Whole-exome sequencing was performed to identify gene mutations. MSN protein expression and T cell proliferation and activation were determined by flow cytometry. Cell migration was confirmed with a Transwell assay. Autoantibody levels were analyzed using antigen microarrays.

resultsThe patient was a 10-year-old boy who presented with recurrent fever, oral ulcers and dermatomyositis-like symptoms, such as periorbital edema, facial swelling, elevated creatine kinase levels, and abnormal electromyography and muscle biopsy results. Epstein-Barr virus (EBV) DNA was detected in the serum, cells and tissues of this patient. He further developed nasal-type NK/T-cell lymphoma. A novel hemizygous mutation (c.68 A > G, p.N23S) in the MSN gene was found. The immunological phenotype of this patient included persistent decreases in T and B lymphocyte counts but normal immunoglobulin IgG levels. The patient had attenuated MSN protein expression and impaired T-cell proliferation and migration. The proportions of Tfh cells and CD21

conclusionsThe novel mutation N23S is pathogenic and leads to a severe clinical phenotype. EBV infection, tumor, and dermatomyositis-like autoimmune symptoms may be associated with MSN deficiency, further expanding the understanding of the disease.

Indexed as

DermatomyositisEpstein-Barr Virus InfectionsMicrofilament ProteinsMutationAutoantibodiesChildExome SequencingHerpesvirus 4, HumanHumansImmunologic Deficiency SyndromesMalePhenotypeT-LymphocytesAutoantibodiesMicrofilament ProteinsmoesinAutoimmune diseaseDermatomyositisEBV infectionGene mutationMSN deficiency

Identifiers

PMID38922539

What OpenQuestion holds

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Registered trials

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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.