Evidence map›Paper›PMID 40788322›Full record

ArticleJournal of clinical immunology2025

The Immunodeficiency Profile of Lymphocytes in the Patient with Moesin Gene Mutation During Different Infection.

Qian Liu, Ai Zhang, Yuxin Bai, Xinpu Yang, Xinglou Liu, Lu Yang, Yanqin Ying, Xiaoping Luo, Feng Fang, Chaohong Liu

Abstract readCase Reports
In one paragraph

Article in Journal of clinical immunology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. 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

10 authors.

Qian LiuDepartment of Pathogen Biology, School of Basic Medicine, Tongji Medical College, State Key Laboratory for Diagnosis and Treatment of Severe Zoonotic Infectious Diseases, Huazhong University of Science and Technology, Wuhan, China.
Ai ZhangDepartment of Pediatrics, Tongji Children's Hospital, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Yuxin BaiDepartment of Pathogen Biology, School of Basic Medicine, Tongji Medical College, State Key Laboratory for Diagnosis and Treatment of Severe Zoonotic Infectious Diseases, Huazhong University of Science and Technology, Wuhan, China.
Xinpu YangDepartment of Immunology, Yangtze University Health Science Center, Yangtze University, Jingzhou, Hubei, China.
Xinglou LiuDepartment of Pediatrics, Tongji Children's Hospital, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Lu YangDepartment of Pathogen Biology, School of Basic Medicine, Tongji Medical College, State Key Laboratory for Diagnosis and Treatment of Severe Zoonotic Infectious Diseases, Huazhong University of Science and Technology, Wuhan, China.
Yanqin YingDepartment of Pediatrics, Tongji Children's Hospital, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Xiaoping LuoDepartment of Pediatrics, Tongji Children's Hospital, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Feng FangDepartment of Pediatrics, Tongji Children's Hospital, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China. ffang@tjh.tjmu.edu.cn.
Chaohong LiuDepartment of Pathogen Biology, School of Basic Medicine, Tongji Medical College, State Key Laboratory for Diagnosis and Treatment of Severe Zoonotic Infectious Diseases, Huazhong University of Science and Technology, Wuhan, China. chaohongliu80@126.com.

Funding

National Key R&D Program of China 2023YFC2706300National Natural Science Foundation of China 82371784, 32311530061State Key Laboratory for Diagnosis and Treatment of Severe Zoonotic Infectious Diseases Program 2024ZZ00007
6 · The paper itself

Abstract

purposeThe Ezrin-Radixin-Moesin (ERM) family member moesin (MSN) plays a crucial role in reversibly linking F-actin to the cell membrane. Patients carrying MSN gene mutations consistently exhibit immunodeficiencies. However, due to the scarce number of reported cases worldwide, the mechanism by which MSN mutation leads to immune function defects remains unclear. This study aims to profile the immunological features in MSN mutant patients elaborately.

methodsIn this article, we present a case study of a patient with c.511 C > T, p.Arg171Trp (p.R171W) mutation on the MSN gene. We analyzed abnormalities in peripheral immune cell subsets by quantitative analysis, morphological examination, and functional molecule assessment during various infection states. Using total internal reflection fluorescence microscopy (TIRFm), we visualized BCR clusters and F-actin dynamics in B cells, revealing valuable insights into B cell activation and the link between F-actin aggregation and BCR signaling in MSN mutant patients.

resultsThe results suggest that the MSN c.511 C > T, p.Arg171Trp (p.R171W) mutation affects the proliferation, differentiation, metabolism, and adhesion functions in peripheral immune cells, as well as the maturation process in bone marrow cells. Additionally, we elucidate the impact of MSN mutation on B cell and T cell metabolism and propose a potential diagnostic indicator for patients with MSN gene mutations.

conclusionOur findings support the diagnosis of primary immunodeficiency and provide detailed insights into changes occurring in immune cells, especially B cells. Overall, our study adds to the diagnosis and pathogenesis of X-linked moesin-associated immunodeficiency (X-MAID).

Indexed as

B-LymphocytesImmunologic Deficiency SyndromesLymphocytesMicrofilament ProteinsMutationActinsHumansLymphocyte ActivationActinsMicrofilament ProteinsmoesinB CellBCRF-actinImmunodeficiencyMoesinX-MAID

Identifiers

PMID40788322
PMCPMC12339625

What Socratic 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 Socratic graph.