immunodeficiency 32B

A monocyte, dendritic cell, and NK cell deficiency characterized by defects in monocyte, dendritic cell, and natural killer (NK) cell development or function resulting recurrent infections particularly viral nfections that has_material_basis_in homozygous or c

A monocyte, dendritic cell, and NK cell deficiency characterized by defects in monocyte, dendritic cell, and natural killer (NK) cell development or function resulting recurrent infections particularly viral nfections that has_material_basis_in homozygous or compound heterozygous mutation in the IRF8 gene on chromosome 16q24.1.

Signs and symptoms

• Increased total eosinophil count
• Decreased neutrophil oxidative burst
• BCGitis
• Hepatomegaly
• Hypoalbuminemia
• Decreased total monocyte count
• Granulocytic hyperplasia
• Increased total neutrophil count
• Failure to thrive
• Anemia

Also known as: IMD32B; autosomal recessive IRF8 deficiency; immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive