Immunodeficiency 24

Preferred Label : Immunodeficiency 24;

Symbol : IMD24;

CISMeF acronym : IMD24;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cytidine 5-prime triphosphate synthetase 1 gene (CTPS1, 123860.0001);

Neoplasia : Increased risk of EBV-driven B-cell lymphoma;

Prefixed ID : #615897;

Details

Origin ID

615897;

UMLS CUI

C4014617;

Automatic exact mappings (from CISMeF team)
- Severe combined immunodeficiency due to CTPS1 deficiency [ORDO Disease]
- immunodeficiency 24 [DO Concept]
DO Cross reference
- immunodeficiency 24 [DO Concept]
Genes related to phenotype
- Cytidine 5-prime triphosphate synthetase 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Decreased CD4:CD8 ratio [HPO term]
- Decreased circulating IgG level [HPO term]
- Decreased circulating IgG2 level [HPO term]
- Decreased proportion of memory B cells [HPO term]
- Decreased specific pneumococcal antibody level [HPO term]
- Defective T cell proliferation [HPO term]
- Immunodeficiency [HPO term]
- Lymphopenia [HPO term]
- Lymphoproliferative disorder [HPO term]
- Partial absence of specific antibody response to tetanus vaccine [HPO term]
- Persistent viremia [HPO term]
- Recurrent viral infections [HPO term]
- Reduced antigen-specific T cell proliferation [HPO term]
- Reduced proportion of mucosal-associated invariant T cells [HPO term]
- Respiratory tract infection [HPO term]
- Severe varicella zoster infection [HPO term]
- Severe viral infection [HPO term]
- obsolete Severe viral infections [HPO term]
ORDO concept(s)
- Severe combined immunodeficiency due to CTPS1 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- immunodeficiency 24 [DO Concept]

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