KEGG   VARIANT: 10379v1
Entry
10379v1                      Variant                               
Name
IRF9 mutation
Gene
IRF9  interferon regulatory factor 9 [KO:K04693]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 147574
Network
nt06518  JAK-STAT signaling
nt06527  Necroptosis
Disease
H02525  Disorders of innate immunity
Reference
PMID:30826365
  Authors
Bravo Garcia-Morato M, Calvo Apalategi A, Bravo-Gallego LY, Blazquez Moreno A, Simon-Fuentes M, Garmendia JV, Mendez Echevarria A, Del Rosal Rabes T, Dominguez-Soto A, Lopez-Granados E, Reyburn HT, Rodriguez Pena R
  Title
Impaired control of multiple viral infections in a family with complete IRF9 deficiency.
  Journal
J Allergy Clin Immunol 144:309-312.e10 (2019)
DOI:10.1016/j.jaci.2019.02.019
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