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T-B+ severe combined immunodeficiency due to JAK3 deficiency
Disease Summary
Associated Targets (1)
Tclin
1
Mondo Description Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.
Uniprot Description A form of severe combined immunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development.
Mondo Term and Equivalent IDs
MONDO:0010938: T-B+ severe combined immunodeficiency due to JAK3 deficiency
Download Data for T-B+ severe combined immunodeficiency due to JAK3 deficiency
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
MESH:C563440
OMIM:600802
Orphanet:35078
SCTID:718107000
UMLS:C1833275
UMLS:C4273742
MONDO:0010938
High level summary of knowledge for a disease, including descriptions and datasource references.