KEGG   VARIANT: 3587v1
Entry
3587v1                      Variant                                
Name
IL10RA mutation
Type
Loss of function
Gene
IL10RA  interleukin 10 receptor subunit alpha [KO:K05134]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 146933
Network
nt06518  JAK-STAT signaling
Disease
H01227  Inflammatory bowel disease (IBD)
Reference
  Authors
Wei HX, Wang B, Li B
  Title
IL-10 and IL-22 in Mucosal Immunity: Driving Protection and Pathology.
  Journal
Front Immunol 11:1315 (2020)
DOI:10.3389/fimmu.2020.01315
Reference
  Authors
Glocker EO, Kotlarz D, Boztug K, Gertz EM, Schaffer AA, Noyan F, Perro M, Diestelhorst J, Allroth A, Murugan D, Hatscher N, Pfeifer D, Sykora KW, Sauer M, Kreipe H, Lacher M, Nustede R, Woellner C, Baumann U, Salzer U, Koletzko S, Shah N, Segal AW, Sauerbrey A, Buderus S, Snapper SB, Grimbacher B, Klein C
  Title
Inflammatory bowel disease and mutations affecting the interleukin-10 receptor.
  Journal
N Engl J Med 361:2033-45 (2009)
DOI:10.1056/NEJMoa0907206
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