immunodeficiency 32A

Term ID

DOID:0111986

Synonyms

• IMD32A
• immunodeficiency 32A, mycobacteriosis, autosomal dominant
• Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency
• Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
• MSMD due to partial interferon regulatory factor 8 deficiency
• MSMD due to partial IRF8 deficiency

Definition

A dendritic cell deficiency characterized by marked loss of CD11C-positive/CD1C dendritic cells and increased susceptibility to mycobacterial infections that has_material_basis_in heterozygous mutation in the IRF8 gene on chromosome 16q24.1. https://pubmed.ncbi.nlm.nih.gov/21524210/

References

• MIM:614893
• ORDO:319600
• UMLS_CUI:C3808589

Ontology

Human Disease   ( DOID:0111986 )