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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.




Autosomal recessive monocyte and dendritic cell deficiency
Immunodeficiency 32B, monocyte, dendritic cell, and natural killer cell deficiency, autosomal recessive
IRF8 deficiency, autosomal recessive


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