JAK3, Janus kinase 3, 3718

N. diseases: 194; N. variants: 28
Disease: Job Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3887645
Disease: Job Syndrome
Job Syndrome 		0.010 Biomarker disease BEFREE This is manifested in the hyper-IgE syndrome, X-linked and JAK3-related severe combined immunodeficiency (SCID) and loss-of-function mutations in the IL-21R gene. 24126614 2013