Immunodeficiency 19, severe combined

Preferred Label : Immunodeficiency 19, severe combined;

Symbol : IMD19;

CISMeF acronym : IMD19;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Severe combined immunodeficiency, t cell-negative, b cell-positive, nk cell-positive; Scid, t cell-negative, b cell-positive, nk cell-positive; Cd3-delta deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the CD3 antigen, delta subunit gene (CD3D, 186790.0001);

Prefixed ID : #615617;

Details

Origin ID

615617;

UMLS CUI

C3810147;

Automatic exact mappings (from CISMeF team)
- CD3delta deficiency [DO Concept]
- immunodeficiency 19 [DO Concept]
DO Cross reference
- immunodeficiency 19 [DO Concept]
Genes related to phenotype
- Cd3 antigen, delta subunit [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Diarrhea [HPO term]
- Failure to thrive [HPO term]
- Immunodeficiency [HPO term]
- Infantile onset [HPO term]
- Lymphopenia [HPO term]
- Recurrent otitis media [HPO term]
- Recurrent respiratory infections [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]
UMLS correspondences (same concept)
- immunodeficiency 19 [DO Concept]

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