KEGG   VARIANT: 6774v1
Entry
6774v1                      Variant                                
Name
STAT3 mutation
Type
Loss 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
H01968  Hyper-IgE syndrome
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
Asano T, Khourieh J, Zhang P, Rapaport F, Spaan AN, Li J, Lei WT, Pelham SJ, Hum D, Chrabieh M, Han JE, Guerin A, Mackie J, Gupta S, Saikia B, Baghdadi JEI, Fadil I, Bousfiha A, Habib T, Marr N, Ganeshanandan L, Peake J, Droney L, Williams A, Celmeli F, Hatipoglu N, Ozcelik T, Picard C, Abel L, Tangye SG, Boisson-Dupuis S, Zhang Q, Puel A, Beziat V, Casanova JL, Boisson B
  Title
Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance.
  Journal
J Exp Med 218:212397 (2021)
DOI:10.1084/jem.20202592
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