KEGG   VARIANT: 3458v1
Entry
3458v1                      Variant                                
Name
IFNG mutation
Type
Loss of function
Gene
IFNG  interferon gamma [KO:K04687]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 147570
Network
nt06518  JAK-STAT signaling
nt06527  Necroptosis
Disease
H01725  Primary immunodeficiency disease
Reference
  Authors
Kerner G, Rosain J, Guerin A, Al-Khabaz A, Oleaga-Quintas C, Rapaport F, Massaad MJ, Ding JY, Khan T, Ali FA, Rahman M, Deswarte C, Martinez-Barricarte R, Geha RS, Jeanne-Julien V, Garcia D, Chi CY, Yang R, Roynard M, Fleckenstein B, Rozenberg F, Boisson-Dupuis S, Ku CL, Seeleuthner Y, Beziat V, Marr N, Abel L, Al-Herz W, Casanova JL, Bustamante J
  Title
Inherited human IFN-gamma deficiency underlies mycobacterial disease.
  Journal
J Clin Invest 130:3158-3171 (2020)
DOI:10.1172/JCI135460
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