Immunodeficiency 15a

Preferred Label : Immunodeficiency 15a;

Symbol : IMD15A;

CISMeF acronym : IMD15A;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the inhibitor of nuclear factor kappa-B kinase, subunit beta gene (IKBKB, 603258.0003);

Prefixed ID : #618204;

Details

Origin ID

618204;

UMLS CUI

C4748694;

Automatic exact mappings (from CISMeF team)
- IKBKB wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- immunodeficiency 15A [DO Concept]
DO Cross reference
- immunodeficiency 15A [DO Concept]
Genes related to phenotype
- Inhibitor of nuclear factor kappa-b kinase, subunit beta [OMIM gene]
HPO term(s)
- Acne inversa [HPO term]
- Autosomal dominant inheritance [HPO term]
- Childhood onset [HPO term]
- Chronic mucocutaneous candidiasis [HPO term]
- Cutaneous abscess [HPO term]
- Decreased proportion of CD4-positive helper T cells [HPO term]
- Decreased proportion of CD8-positive T cells [HPO term]
- Decreased proportion of memory B cells [HPO term]
- Recurrent otitis media [HPO term]
- Recurrent respiratory infections [HPO term]
- Recurrent sinusitis [HPO term]
ORDO concept(s)
- Severe combined immunodeficiency due to IKK2 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- immunodeficiency 15A [DO Concept]

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