U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency

Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency

Synonyms
IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT; IRF8 DEFICIENCY, AUTOSOMAL DOMINANT; Immunodeficiency 32a
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Autosomal dominant IRF8 deficiency, or IMD32A, causes an abnormal peripheral blood myeloid phenotype with a marked loss of CD11C (ITGAX; 151510)-positive/CD1C (188340)-positive dendritic cells, resulting in selective susceptibility to mycobacterial infections (Hambleton et al., 2011). [from OMIM]

Available tests

17 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (17 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)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.