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susceptibility to respiratory infections associated with CD8alpha chain mutation
Disease Summary
Associated Targets (2)
Tchem
1
Tbio
1
Mondo Description Susceptibility to respiratory infections associated with CD8 alpha chain mutation is a rare primary immunodeficiency due to a defect in adaptive immunity characterized by the absence of CD8+ T cells with normal immunoglobulin and specific antibody titres in blood and susceptibility to recurrent respiratory bacterial and viral infections. Symptom severity range from fatal respiratory insufficiency to mild or asymptomatic phenotypes.
Uniprot Description An immunologic defect characterized by absence of CD8+ cells, leading to recurrent bacterial infections.
Mondo Term and Equivalent IDs
MONDO:0012161: susceptibility to respiratory infections associated with CD8alpha chain mutation
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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:C563824
OMIM:608957
Orphanet:169085
SCTID:766983005
UMLS:C1837065
MONDO:0012161
High level summary of knowledge for a disease, including descriptions and datasource references.