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immunodeficiency 49
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL11B gene.
Uniprot Description A form of severe combined immunodeficiency characterized by severe T-cell lymphopenia, no detectable T-cell receptor excision circles, no naive helper CD4+ T-cells, and impaired T-cell proliferative response. In addition to primary immunodeficiency, affected individuals manifest multiple abnormal systemic features, including severe delayed psychomotor development, intellectual disability, spastic quadriplegia, and craniofacial abnormalities.
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.
OMIM:617237
UMLS:C4310656
MONDO:0014981
High level summary of knowledge for a disease, including descriptions and datasource references.