KEGG   VARIANT: 64135v1
Entry
64135v1                      Variant                               
Name
IFIH1 mutation
Type
Loss of function
Gene
IFIH1  interferon induced with helicase C domain 1 [KO:K12647]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 606951
Network
nt06519  RLR signaling
Disease
H02525  Disorders of innate immunity
Reference
  Authors
Lamborn IT, Jing H, Zhang Y, Drutman SB, Abbott JK, Munir S, Bade S, Murdock HM, Santos CP, Brock LG, Masutani E, Fordjour EY, McElwee JJ, Hughes JD, Nichols DP, Belkadi A, Oler AJ, Happel CS, Matthews HF, Abel L, Collins PL, Subbarao K, Gelfand EW, Ciancanelli MJ, Casanova JL, Su HC
  Title
Recurrent rhinovirus infections in a child with inherited MDA5 deficiency.
  Journal
J Exp Med 214:1949-1972 (2017)
DOI:10.1084/jem.20161759
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