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susceptibility to respiratory infections associated with CD8alpha chain mutation

^ http://purl.obolibrary.org/obo/MONDO_0012161

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. [ Orphanet:169085 ]

Term info

database cross reference
  • MESH:C563824 (MONDO:equivalentTo)
  • UMLS:C1837065 (Orphanet:169085)
  • Orphanet:169085 (OMIM:608957)
  • OMIM:608957 (Orphanet:169085/e)
  • SCTID:766983005 (MONDO:equivalentTo)
Subsets

ordo_disease, predisposition

definition

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.

exactMatch

https://omim.org/entry/608957, http://identifiers.org/mesh/C563824, http://linkedlifedata.com/resource/umls/id/C1837065, http://purl.obolibrary.org/obo/Orphanet_169085, http://identifiers.org/snomedct/766983005

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0018814

has exact synonym

familial CD8 deficiency, susceptibility to respiratory infections associated with CD8alpha chain mutation

has related synonym

CD8 deficiency, familial

id

MONDO:0012161