title: Immunodeficiencies caused by genetic defects in protein kinases.
abstract: The recognition that defects of ZAP-70 and, more recently, of JAK3 kinase in humans result in severe combined immunodeficiency, and the demonstration that targeting of these and other protein-kinase genes in mice also leads to immunodeficiency, have highlighted the crucial role that these proteins play in T-cell differentiation and activation.
authors.affiliation: Department of Pediatrics, University of Brescia, c/o Spedali Civili 25123, Brescia, Italy. notarang@master.cci.unibs.it
authors.forename: L D
authors.initials: LD
authors.lastname: Notarangelo
mesh_terms: D000818:Animals; D051747:DNA-Activated Protein Kinase; D004268:DNA-Binding Proteins; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000201:enzymology* / Q000235:genetics* / Q000276:immunology; D053616:Janus Kinase 3; D009687:Nuclear Proteins; D017346:Protein Serine-Threonine Kinases / Q000172:deficiency; D011505:Protein-Tyrosine Kinases / Q000172:deficiency*; D016511:Severe Combined Immunodeficiency / Q000201:enzymology / Q000235:genetics / Q000276:immunology; D015398:Signal Transduction / Q000276:immunology; D051746:ZAP-70 Protein-Tyrosine Kinase
chemical_list: D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; D011505:Protein-Tyrosine Kinases; C507933:JAK3 protein, human; D053616:Janus Kinase 3; D051746:ZAP-70 Protein-Tyrosine Kinase; C497261:ZAP70 protein, human; D051747:DNA-Activated Protein Kinase; C497263:PRKDC protein, human; D017346:Protein Serine-Threonine Kinases