KEGG   VARIANT: 3572v1
Entry
3572v1                      Variant                                
Name
IL6ST mutation
Type
Loss of function
Gene
IL6ST  interleukin 6 cytokine family signal transducer [KO:K05060]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600694
Network
nt06518  JAK-STAT signaling
Disease
H00462  Stuve-Wiedemann syndrome
H01968  Hyper-IgE syndrome
Reference
  Authors
Minegishi Y
  Title
Hyper-IgE syndrome, 2021 update.
  Journal
Allergol Int 70:407-414 (2021)
DOI:10.1016/j.alit.2021.07.007
Reference
  Authors
Chen YH, Grigelioniene G, Newton PT, Gullander J, Elfving M, Hammarsjo A, Batkovskyte D, Alsaif HS, Kurdi WIY, Abdulwahab F, Shanmugasundaram V, Devey L, Bacrot S, Brodszki J, Huber C, Hamel B, Gisselsson D, Papadogiannakis N, Jedrycha K, Gurtl-Lackner B, Chagin AS, Nishimura G, Aschenbrenner D, Alkuraya FS, Laurence A, Cormier-Daire V, Uhlig HH
  Title
Absence of GP130 cytokine receptor signaling causes extended Stuve-Wiedemann syndrome.
  Journal
J Exp Med 217:133568 (2020)
DOI:10.1084/jem.20191306
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