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immunodeficiency, common variable, 3
Disease Summary
Associated Targets (1)
Tclin
1
Uniprot Description A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B-cells is usually in the normal range, but can be low.
Mondo Term and Equivalent IDs
MONDO:0013283: immunodeficiency, common variable, 3
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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 UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:613493
UMLS:C3150738
MONDO:0013283
High level summary of knowledge for a disease, including descriptions and datasource references.