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T-B+ severe combined immunodeficiency due to gamma chain deficiency

Disease Summary
Associated Targets (2)
Tclin

1

Tbio

1


GARD Rare
Mondo Description Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, 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.
Disease Ontology Description A severe combined immunodeficiency that is a X-linked SCID that has_material_basis_in mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells.
Mondo Term and Equivalent IDs
MONDO:0010315:  T-B+ severe combined immunodeficiency due to gamma chain deficiency
EFO:0005555: 
GARD:0005618: 
NCIT:C4682: 
Orphanet:276: 
SCTID:203592006: