Immunodeficiency 25

Preferred Label : Immunodeficiency 25;

Symbol : IMD25;

CISMeF acronym : IMD25;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Immunodeficiency due to defect in cd3-zeta;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the CD247 antigen gene (CD247, 186780.0001);

Prefixed ID : #610163;

Details

Origin ID

610163;

UMLS CUI

C1857798;

Automatic exact mappings (from CISMeF team)
- T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta [ORDO Disease]
- immunodeficiency 25 [DO Concept]
Currated CISMeF NLP mapping
- immunodeficiency due to defect in CD3-Zeta [MeSH concept]
- immunodeficiency due to defect in CD3-Zeta [MeSH Supplementary Concept]
DO Cross reference
- immunodeficiency 25 [DO Concept]
Genes related to phenotype
- Cd247 antigen [OMIM gene]
HPO term(s)
- Antimitochondrial antibody positivity [HPO term]
- Autoimmune hemolytic anemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Complete or near-complete absence of specific antibody response to tetanus vaccine [HPO term]
- Decreased circulating IgG2 level [HPO term]
- Eosinophilia [HPO term]
- Erythroderma [HPO term]
- Immunodeficiency [HPO term]
- Increased circulating IgA level [HPO term]
- Increased circulating IgE level [HPO term]
- Increased circulating IgG level [HPO term]
- Increased circulating IgM level [HPO term]
- Infantile onset [HPO term]
- Protracted diarrhea [HPO term]
- Recurrent candida infections [HPO term]
- Recurrent herpes [HPO term]
- Recurrent pneumonia [HPO term]
- Smooth muscle antibody positivity [HPO term]
- T lymphocytopenia [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 25 [DO Concept]
- immunodeficiency due to defect in CD3-Zeta [MeSH Supplementary Concept]
- immunodeficiency due to defect in CD3-Zeta [MeSH concept]

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