immunodeficiency 32A

info · Immune

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.

Signs and symptoms

BCGitis
Granuloma
Lymphadenopathy
Lymphadenitis
Recurrent infections
Fever
Immunodeficiency

Also known as: IMD32A; MSMD due to partial IRF8 deficiency; MSMD due to partial interferon regulatory factor 8 deficiency; Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency; Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency