KEGG   VARIANT: 3716v1
Entry
3716v1                      Variant                                
Name
JAK1 mutation
Type
Gain of function
Gene
JAK1  Janus kinase 1 [KO:K11217]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 147795
Network
nt06518  JAK-STAT signaling
Disease
H02537  Autoinflammation, immune dysregulation, and eosinophilia
Reference
PMID:34625141
  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
PMID:28111307
  Authors
Del Bel KL, Ragotte RJ, Saferali A, Lee S, Vercauteren SM, Mostafavi SA, Schreiber RA, Prendiville JS, Phang MS, Halparin J, Au N, Dean JM, Priatel JJ, Jewels E, Junker AK, Rogers PC, Seear M, McKinnon ML, Turvey SE
  Title
JAK1 gain-of-function causes an autosomal dominant immune dysregulatory and hypereosinophilic syndrome.
  Journal
J Allergy Clin Immunol 139:2016-2020.e5 (2017)
DOI:10.1016/j.jaci.2016.12.957
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