DOCK2-Associated Immunodeficiency

Preferred Label : DOCK2-Associated Immunodeficiency;

NCIt synonyms : IMD40; Immunodeficiency 40;

NCIt related terms : DOCK2 Deficiency;

NCIt definition : An autosomal recessive combined immunodeficiency caused by mutation(s) in the DOCK2 gene, encoding dedicator of cytokinesis protein 2. It is characterized by combined immunodeficiency, primarily affecting T-cells, with more variable defects in B-cell and NK-cell function, resulting in viral and bacterial infections that may lead to death in severe cases.;

Details

Origin ID

C176799;

UMLS CUI

C4225328;

Currated CISMeF NLP mapping
- DOCK2 deficiency [ORDO Disease]
- Dedicator of cytokinesis 2 deficiency (disorder) [SNOMED CT concept]
- Immunodeficiency 40 [OMIM Phenotype]
- immunodeficiency 40 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dedicator of cytokinesis 2 deficiency (disorder) [SNOMED CT concept]
- Immunodeficiency 40 [OMIM Phenotype]
- immunodeficiency 40 [DO Concept]
disease_mapped_to_gene
- DOCK2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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