IL12RB1-Associated Immunodeficiency

Preferred Label : IL12RB1-Associated Immunodeficiency;

NCIt synonyms : IL12RB1 Deficiency; IMD30; Immunodeficiency 30;

NCIt related terms : IL-12 Receptor B Deficiency;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the IL12RB1 gene, encoding interleukin-12 receptor subunit beta-1. It is characterized by a susceptibility to mycobacterial disease. IL12RB1 associated with IL12RB2 results in a high affinity receptor for IL12. IL12RB1 combined with IL23R forms the interleukin-23 receptor.;

Détails

Origin ID

C176800;

UMLS CUI

C4013949;

Currated CISMeF NLP mapping
- Immunodeficiency 30 [OMIM Phenotype]
- immunodeficiency 30 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Immunodeficiency 30 [OMIM Phenotype]
- immunodeficiency 30 [DO Concept]
disease_has_primary_anatomic_site
- Immune System [NCIt concept]
disease_mapped_to_gene
- IL12RB1 Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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