Severe combined immune deficiencies due to defects of the common gamma chain-JAK3 signaling pathway.
Candotti
F
F
Department of Pediatrics, University of Brescia, Spedali Civili, Italy.
O'Shea
J J
JJ
Villa
A
A
D000818:Animals; D005260:Female; D008040:Genetic Linkage; D006362:Heavy Chain Disease / Q000235:genetics / Q000276:immunology; D006801:Humans; D053616:Janus Kinase 3; D051379:Mice; D018345:Mice, Knockout; D017354:Point Mutation; D011505:Protein-Tyrosine Kinases / Q000235:genetics / Q000378:metabolism*; D016511:Severe Combined Immunodeficiency / Q000175:diagnosis / Q000201:enzymology* / Q000235:genetics / Q000276:immunology* / Q000628:therapy; D015398:Signal Transduction; D014960:X Chromosome
D011505:Protein-Tyrosine Kinases; C507933:JAK3 protein, human; C507935:Jak3 protein, mouse; D053616:Janus Kinase 3