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

ABSTRACT:

Purpose

The 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.

Methods

In 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

SUBMITTER: Liu Q 

PROVIDER: S-EPMC12339625 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature