KEGG   VARIANT: 3560v1
Entry
3560v1                      Variant                                
Name
IL2RB mutation
Type
Loss of function
Gene
IL2RB  interleukin 2 receptor subunit beta [KO:K05069]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 146710
Network
nt06518  JAK-STAT signaling
Disease
H02525  Disorders of innate immunity
Reference
  Authors
Fernandez IZ, Baxter RM, Garcia-Perez JE, Vendrame E, Ranganath T, Kong DS, Lundquist K, Nguyen T, Ogolla S, Black J, Galambos C, Gumbart JC, Dawany N, Kelsen JR, de Zoeten EF, Quinones R, Eissa H, Verneris MR, Sullivan KE, Rochford R, Blish CA, Kedl RM, Dutmer CM, Hsieh EWY
  Title
A novel human IL2RB mutation results in T and NK cell-driven immune dysregulation.
  Journal
J Exp Med 216:1255-1267 (2019)
DOI:10.1084/jem.20182015
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