KEGG   VARIANT: 4478v1
Entry
4478v1                      Variant                                
Name
MSN mutation
Type
Loss of function
Gene
MSN  moesin [KO:K05763]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 309845
Network
nt06546  IgSF CAM signaling
Disease
H00093  Combined immunodeficiency
Reference
  Authors
Lagresle-Peyrou C, Luce S, Ouchani F, Soheili TS, Sadek H, Chouteau M, Durand A, Pic I, Majewski J, Brouzes C, Lambert N, Bohineust A, Verhoeyen E, Cosset FL, Magerus-Chatinet A, Rieux-Laucat F, Gandemer V, Monnier D, Heijmans C, van Gijn M, Dalm VA, Mahlaoui N, Stephan JL, Picard C, Durandy A, Kracker S, Hivroz C, Jabado N, de Saint Basile G, Fischer A, Cavazzana M, Andre-Schmutz I
  Title
X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene.
  Journal
J Allergy Clin Immunol 138:1681-1689.e8 (2016)
DOI:10.1016/j.jaci.2016.04.032
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