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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
MESH:C563824: 
Orphanet:169085: 
SCTID:766983005: 
UMLS:C1837065: