Human tyk2 kinase deficiency: another primary immunodeficiency syndrome.
Janus kinases are critical for cytokine signaling. Mutations of Jak3 cause primary immunodeficiency, but Minegishi et al. (2006) now show that mutation of another Jak, tyrosine kinase 2, underlies another human immunodeficiency syndrome.
Watford
Wendy T
WT
Molecular Immunology and Inflammation Branch, National Institutes of Arthritis, Musculoskeletal and Skin Disease, National Institutes of Health, Bethesda, MD 20892, USA.
O'Shea
John J
JJ
D000818:Animals; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics* / Q000276:immunology / Q000503:physiopathology; D051379:Mice; D009154:Mutation; D053634:TYK2 Kinase / Q000172:deficiency* / Q000235:genetics / Q000276:immunology*
D053634:TYK2 Kinase; C070139:TYK2 protein, human