KEGG   VARIANT: 6774v2
Entry
6774v2                      Variant                                
Name
STAT3 gain-of-function mutation
Type
Gain of function
Gene
STAT3  signal transducer and activator of transcription 3 [KO:K04692]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 102582
Network
nt06518  JAK-STAT signaling
Disease
H02540  Infantile-onset multisystem autoimmune disease
Reference
  Authors
Luo Y, Alexander M, Gadina M, O'Shea JJ, Meylan F, Schwartz DM
  Title
JAK-STAT signaling in human disease: From genetic syndromes to clinical inhibition.
  Journal
J Allergy Clin Immunol 148:911-925 (2021)
DOI:10.1016/j.jaci.2021.08.004
Reference
  Authors
Milner JD, Vogel TP, Forbes L, Ma CA, Stray-Pedersen A, Niemela JE, Lyons JJ, Engelhardt KR, Zhang Y, Topcagic N, Roberson ED, Matthews H, Verbsky JW, Dasu T, Vargas-Hernandez A, Varghese N, McClain KL, Karam LB, Nahmod K, Makedonas G, Mace EM, Sorte HS, Perminow G, Rao VK, O'Connell MP, Price S, Su HC, Butrick M, McElwee J, Hughes JD, Willet J, Swan D, Xu Y, Santibanez-Koref M, Slowik V, Dinwiddie DL, Ciaccio CE, Saunders CJ, Septer S, Kingsmore SF, White AJ, Cant AJ, Hambleton S, Cooper MA
  Title
Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations.
  Journal
Blood 125:591-9 (2015)
DOI:10.1182/blood-2014-09-602763
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