Immunodeficiency 18

Preferred Label : Immunodeficiency 18;

Symbol : IMD18;

CISMeF acronym : IMD18;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cd3-epsilon deficiency;

Included titles and symbols : Immunodeficiency 18, severe combined immunodeficiency variant; Immunodeficiency 18, scid variant;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the CD3 antigen, epsilon subunit gene (CD3E, 186830.0001);

Prefixed ID : #615615;

Details

Origin ID

615615;

UMLS CUI

C3810127;

Automatic exact mappings (from CISMeF team)
- CD3epsilon deficiency [DO Concept]
- immunodeficiency 18 [DO Concept]
DO Cross reference
- immunodeficiency 18 [DO Concept]
Genes related to phenotype
- Cd3 antigen, epsilon subunit [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Decreased proportion of CD3-positive T cells [HPO term]
- Defective T cell proliferation [HPO term]
- Immunodeficiency [HPO term]
- Infantile onset [HPO term]
- Lymphopenia [HPO term]
- Recurrent gastroenteritis [HPO term]
- Recurrent otitis media [HPO term]
- Recurrent respiratory infections [HPO term]
- Variable expressivity [HPO term]
Not associated HPO term(s)
- Abnormal B cell morphology [HPO term]
- Abnormal natural killer cell morphology [HPO term]
ORDO concept(s)
- T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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