Severe combined immunodeficiencies of the common gamma-chain/JAK3 signaling pathway.
Schumacher
Richard Fabian
RF
Department of Pediatrics, Angelo Nocivelli Institute of Molecular Medicine, University of Brescia-Spedali Civili, Brescia, Italy.
Notarangelo
Luigi D
LD
D005260:Female; D006801:Humans; D007231:Infant, Newborn; D053631:Interleukin Receptor Common gamma Subunit; D053616:Janus Kinase 3; D008297:Male; D011505:Protein-Tyrosine Kinases / Q000235:genetics* / Q000502:physiology*; D020395:Receptors, Interleukin-7 / Q000235:genetics* / Q000502:physiology*; D016511:Severe Combined Immunodeficiency / Q000235:genetics* / Q000503:physiopathology* / Q000628:therapy; D015398:Signal Transduction / Q000235:genetics* / Q000502:physiology*
C507941:IL2RG protein, human; D053631:Interleukin Receptor Common gamma Subunit; D020395:Receptors, Interleukin-7; D011505:Protein-Tyrosine Kinases; C507933:JAK3 protein, human; D053616:Janus Kinase 3