autosomal recessive chronic granulomatous disease 4

A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CYBA gene on chromosome 16q24.2.

Signs and symptoms

• Discoid lupus rash
• Recurrent Escherichia coli infection
• Lymphadenitis
• Recurrent Serratia infection
• Hepatomegaly
• Liver abscess
• Lymphadenopathy
• Granulomatosis
• Recurrent pneumonia
• Decreased activity of NADPH oxidase

Also known as: CGD due to deficiency of the alpha subunit of cytochrome b; CYBA deficiency; autosomal recessive chronic granulomatous disease cytochrome b-negative; autosomal recessive cytochrome b-negative CGD; chronic granulomatous disease due to deficiency of CYBA