Immunodeficiency 15b

Preferred Label : Immunodeficiency 15b;

Symbol : IMD15B;

CISMeF acronym : IMD15; IMD15B;

Type : Phenotype, molecular basis known;

Description : Immunodeficiency-15 (IMD15) is an autosomal recessive primary immunodeficiency disorder characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections and failure to thrive. Laboratory studies show hypo- or agammaglobulinemia with relatively normal numbers of B and T cells. However, functional studies show impaired differentiation and activation of immune cells (summary by Pannicke et al., 2013).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the inhibitor of nuclear factor kappa-B kinase, subunit beta gene (IKBKB, 603258.0001);

Prefixed ID : #615592;

Details

Origin ID

615592;

UMLS CUI

C4747743;

Automatic exact mappings (from CISMeF team)
- IKBKB wt Allele [NCIt concept]
- Severe combined immunodeficiency due to IKK2 deficiency [ORDO Disease]
- immunodeficiency 15B [DO Concept]
DO Cross reference
- immunodeficiency 15B [DO Concept]
Genes related to phenotype
- Inhibitor of nuclear factor kappa-b kinase, subunit beta [OMIM gene]
HPO term(s)
- Agammaglobulinemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Chronic diarrhea [HPO term]
- Decreased circulating antibody level [HPO term]
- Failure to thrive [HPO term]
- Immunodeficiency [HPO term]
- Infantile onset [HPO term]
- Respiratory tract infection [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 15B [DO Concept]

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