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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
MESH:C563440: 
Orphanet:35078: 
SCTID:718107000: 
UMLS:C1833275: 
UMLS:C4273742: