Details of Disease

General Information of Disease (ID: DIS0IOGZ)

Disease Name Susceptibility to respiratory infections associated with CD8alpha chain mutation
Synonyms CD8 deficiency, familial; familial CD8 deficiency; susceptibility to respiratory infections associated with CD8alpha chain mutation
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.
Disease Hierarchy
DISIYKJL: Hereditary predisposition to infections
DIS0IOGZ: Susceptibility to respiratory infections associated with CD8alpha chain mutation
Disease Identifiers
MONDO ID
MONDO_0012161
MESH ID
C563824
UMLS CUI
C1837065
OMIM ID
608957
MedGen ID
323058
Orphanet ID
169085
SNOMED CT ID
766983005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CD8A OTDWQJXK Strong Autosomal recessive [1]
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References

1 Familial CD8 deficiency due to a mutation in the CD8 alpha gene. J Clin Invest. 2001 Jul;108(1):117-23. doi: 10.1172/JCI10993.