Two cases of pediatric primary immunodeficiency caused by a familial moesin(MSN)gene mutation

CONCLUSION: The primary immunodeficiency disease caused by MSN gene mutation is an X-linked recessive genetic disease that involves structural and functional damage to the respiratory system, and the worm-eaten appearance of the bronchial wall under endoscopy may be a relatively specific sign. The general manifestations of this disease are recurrent infections from 1 month to 6 months after birth, significantly reduced counts of lymphocytes and neutrophils, and decreased cellular and humoral immune function. Different types of MSN gene mutations and nonsense mutations at different sites have different clinical phenotypes. This study enriches the known spectrum of this disease.PMID:38052292 | DOI:10.1016/j.clim.2023.109858
Source: Clinical Immunology - Category: Allergy & Immunology Authors: Source Type: research