KEGG   VARIANT: 3459v1
Entry
3459v1                      Variant                                
Name
IFNGR1 mutation
Type
Loss of function
Gene
IFNGR1  interferon gamma receptor 1 [KO:K05132]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 107470
Network
nt06518  JAK-STAT signaling
Disease
H00089  IFN-gamma/IL-12 axis
Reference
PMID:8960475
  Authors
Jouanguy E, Altare F, Lamhamedi S, Revy P, Emile JF, Newport M, Levin M, Blanche S, Seboun E, Fischer A, Casanova JL
  Title
Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guerin infection.
  Journal
N Engl J Med 335:1956-61 (1996)
DOI:10.1056/NEJM199612263352604
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