KEGG   VARIANT: 6773v1
Entry
6773v1                      Variant                                
Name
STAT2 mutation
Type
Loss of function
Gene
STAT2  signal transducer and activator of transcription 2 [KO:K11221]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600556
Network
nt06518  JAK-STAT signaling
nt06527  Necroptosis
Disease
H02525  Disorders of innate immunity
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
Zhang Q, Matuozzo D, Le Pen J, Lee D, Moens L, Asano T, Bohlen J, Liu Z, Moncada-Velez M, Kendir-Demirkol Y, Jing H, Bizien L, Marchal A, Abolhassani H, Delafontaine S, Bucciol G, Bayhan GI, Keles S, Kiykim A, Hancerli S, Haerynck F, Florkin B, Hatipoglu N, Ozcelik T, Morelle G, Zatz M, Ng LFP, Lye DC, Young BE, Leo YS, Dalgard CL, Lifton RP, Renia L, Meyts I, Jouanguy E, Hammarstrom L, Pan-Hammarstrom Q, Boisson B, Bastard P, Su HC, Boisson-Dupuis S, Abel L, Rice CM, Zhang SY, Cobat A, Casanova JL
  Title
Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia.
  Journal
J Exp Med 219:e20220131 (2022)
DOI:10.1084/jem.20220131
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