Associated Papers
The Immunodeficiency Profile of Lymphocytes in the Patient with Moesin Gene Mutation During Different Infection.
Liu Q et al.
Journal of Clinical Immunology, 2025
Novel Mutation in the Moesin (MSN) Gene Leads to Immunodeficiency with Epstein-Barr Virus (EBV) Infection and Dermatomyositis-Like Symptoms.
Sun B et al.
Journal of Clinical Immunology, 2024
Two cases of pediatric primary immunodeficiency caused by a familial moesin(MSN)gene mutation.
Li M et al.
Clinical Immunology (orlando, Fla.), 2024
A Retrospective Analysis of Clinically Focused Exome Sequencing Results of 372 Infants with Suspected Monogenic Disorders in China.
Jia A et al.
Pharmacogenomics and Personalized Medicine, 2023
Retinopathy as an initial sign of hereditary immunological diseases: report of six families and challenges in eye clinic.
Wang Y et al.
Frontiers in Immunology, 2023
A somatic mutation in moesin drives progression into acute myeloid leukemia.
Yuan O et al.
Science Advances, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Integrative genomic and transcriptomic analysis in plasmablastic lymphoma identifies disruption of key regulatory pathways.
Witte HM et al.
Blood Advances, 2022
Hemizygous nonsense variant in the moesin gene (MSN) leads to a new autoimmune phenotype of Immunodeficiency 50.
Kovács AL et al.
Frontiers in Immunology, 2022
When Actin is Not Actin' Like It Should: A New Category of Distinct Primary Immunodeficiency Disorders.
Sprenkeler EGG et al.
Journal of Innate Immunity, 2021
Clinical Utility of Whole Exome Sequencing and Targeted Panels for the Identification of Inborn Errors of Immunity in a Resource-Constrained Setting.
Engelbrecht C et al.
Frontiers in Immunology, 2021
A Murine Model of X-Linked Moesin-Associated Immunodeficiency (X-MAID) Reveals Defects in T Cell Homeostasis and Migration.
Avery L et al.
Frontiers in Immunology, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Human inborn errors of the actin cytoskeleton affecting immunity: way beyond WAS and WIP.
Tangye SG et al.
Immunology and Cell Biology, 2019
Hematopoietic Stem Cell Transplant for the Treatment of X-MAID.
Henrickson SE et al.
Frontiers in Pediatrics, 2019
Exome Sequencing Diagnoses X-Linked Moesin-Associated Immunodeficiency in a Primary Immunodeficiency Case.
Bradshaw G et al.
Frontiers in Immunology, 2018
First Case of X-Linked Moesin Deficiency Identified After Newborn Screening for SCID.
Delmonte OM et al.
Journal of Clinical Immunology, 2017
X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene.
Lagresle-Peyrou C et al.
The Journal of Allergy and Clinical Immunology, 2016