KEGG   VARIANT: 3455v1
Entry
3455v1                      Variant                                
Name
IFNAR2 mutation
Type
Loss of function
Gene
IFNAR2  interferon alpha and beta receptor subunit 2 [KO:K05131]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 602376
Network
nt06518  JAK-STAT signaling
Disease
H02525  Disorders of innate immunity
Reference
PMID:33193576
  Authors
Passarelli C, Civino A, Rossi MN, Cifaldi L, Lanari V, Moneta GM, Caiello I, Bracaglia C, Montinaro R, Novelli A, De Benedetti F, Prencipe G
  Title
IFNAR2 Deficiency Causing Dysregulation of NK Cell Functions and Presenting With Hemophagocytic Lymphohistiocytosis.
  Journal
Front Genet 11:937 (2020)
DOI:10.3389/fgene.2020.00937
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