Disease - Immunodeficiency 32B
Definition
An autosomal recessive primary immunodeficiency characterized by monocyte and dendritic cell deficiency, myeloproliferation, and susceptibility to severe opportunistic infections, including disseminated BCG infection and oral candidiasis.
Acronym
IMD32B
Synonyms
Autosomal recessive monocyte and dendritic cell deficiency
Immunodeficiency 32B, monocyte, dendritic cell, and natural killer cell deficiency, autosomal recessive
IRF8 deficiency, autosomal recessive
Immunodeficiency 32B, monocyte, dendritic cell, and natural killer cell deficiency, autosomal recessive
IRF8 deficiency, autosomal recessive
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