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GTR Home > Conditions/Phenotypes > Severe combined immunodeficiency due to IKK2 deficiency

Severe combined immunodeficiency due to IKK2 deficiency

Synonyms
IMMUNODEFICIENCY 15B; Immunodeficiency 15
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Immunodeficiency-15B (IMD15B) 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). [from OMIM]

Available tests

9 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (9 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: IKK-2, IKK-beta, IKK2, IKKB, IMD15, IMD15A, IMD15B, NFKBIKB, IKBKB
    Summary: inhibitor of nuclear factor kappa B kinase subunit beta

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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