Immunodeficiency 116

Preferred Label : Immunodeficiency 116;

Symbol : IMD116;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cd8 deficiency, familial;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the CD8 antigen, alpha polypeptide gene (CD8A, 186910.0001);

Prefixed ID : #608957;

Details

Origin ID

608957;

UMLS CUI

C1837065;

Currated CISMeF NLP mapping
- CD8 deficiency, familial [MeSH concept]
- CD8 deficiency, familial [MeSH Supplementary Concept]
- Familial CD8 deficiency [ICD-11 More detail]
- Susceptibility to respiratory infection associated with CD8alpha chain mutation (disorder) [SNOMED CT concept]
- Susceptibility to respiratory infections associated with CD8alpha chain mutation [ORDO Disease]
Genes related to phenotype
- Cd8 antigen, alpha polypeptide [OMIM gene]
HPO term(s)
- Absence of CD8-positive T cells [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bronchiectasis [HPO term]
- Congenital onset [HPO term]
- Recurrent bacterial infections [HPO term]
- Recurrent respiratory infections [HPO term]
- Recurrent viral infections [HPO term]
ORDO concept(s)
- Susceptibility to respiratory infections associated with CD8alpha chain mutation [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CD8 deficiency, familial [MeSH Supplementary Concept]
- CD8 deficiency, familial [MeSH concept]
- Susceptibility to respiratory infection associated with CD8alpha chain mutation (disorder) [SNOMED CT concept]
- Susceptibility to respiratory infections associated with CD8alpha chain mutation [ORDO Disease]

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