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Article

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

Journal of clinical immunology - 26 Jun 2024

Sun Bijun, Liu Luyao, Han Lingli, Li Qifan, Wu Qi, Hou Jia, Wang Wenjie, Ying Wenjing, Zhou Qinhua, Qian Feng, Lu Wei, Wang Xiaochuan, Sun Jinqiao

Abstract excerpt

PURPOSE: Moesin (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. METHODS: Clinical and immunological data were collected. Whole-exome sequencing was performed to identify gene mutations. MSN protein expression and T cell proliferation and activation were...

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Identifiers

PMID: 38922539
DOI: 10.1007/s10875-024-01755-0

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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