KEGG   VARIANT: 3593v1
Entry
3593v1                      Variant                                
Name
IL12B mutation
Type
Loss of function
Gene
IL12B  interleukin 12B [KO:K05425]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 161561
Network
nt06518  JAK-STAT signaling
Disease
H00089  IFN-gamma/IL-12 axis
Reference
PMID:9854038
  Authors
Altare F, Lammas D, Revy P, Jouanguy E, Doffinger R, Lamhamedi S, Drysdale P, Scheel-Toellner D, Girdlestone J, Darbyshire P, Wadhwa M, Dockrell H, Salmon M, Fischer A, Durandy A, Casanova JL, Kumararatne DS
  Title
Inherited interleukin 12 deficiency in a child with bacille Calmette-Guerin and Salmonella enteritidis disseminated infection.
  Journal
J Clin Invest 102:2035-40 (1998)
DOI:10.1172/JCI4950
LinkDB

DBGET integrated database retrieval system