KEGG   VARIANT: 3718v1
Entry
3718v1                      Variant                                
Name
JAK3 mutation
Type
Loss of function
Gene
JAK3  Janus kinase 3 [KO:K11218]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600173
Network
nt06518  JAK-STAT signaling
Disease
H00091  T-B+Severe combined immunodeficiency
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
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