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GTR Home > Conditions/Phenotypes > Immunodeficiency 32B

Immunodeficiency 32B

Synonyms
IRF8 DEFICIENCY, AUTOSOMAL RECESSIVE
Modes of inheritance
Unknown inheritance (Orphanet)

Summary

Immunodeficiency-32B is an autosomal recessive primary immunodeficiency characterized by recurrent infections resulting from variable defects in immune cell development or function, including monocytes, dendritic cells, and natural killer (NK) cells. Patients have particular susceptibility to viral disease (summary by Mace et al., 2017). [from OMIM]

Available tests

11 tests are in the database for this condition.

Clinical tests (11 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: H-ICSBP, ICSBP, ICSBP1, IMD32A, IMD32B, IRF-8, IRF8
    Summary: interferon regulatory factor 8

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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