Condition: IMMUNODEFICIENCY 50
rs1057519074 in
MSN gene and
IMMUNODEFICIENCY 50
PMID 28378256 2017 First Case of X-Linked Moesin Deficiency Identified After Newborn Screening for SCID.
PMID 27405666 2016 X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene.
PMID 29556235 2018 Exome Sequencing Diagnoses X-Linked Moesin-Associated Immunodeficiency in a Primary Immunodeficiency Case.