Conditions / Genetic
autosomal recessive chronic granulomatous disease 1
info · Genetic
A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF1 gene on chromosome 7q11.23.
Signs and symptoms
- Decreased neutrophil oxidative burst
- Discoid lupus rash
- Recurrent Escherichia coli infection
- Lymphadenitis
- Recurrent Serratia infection
- Hepatomegaly
- Liver abscess
- Lymphadenopathy
- Granulomatosis
- Recurrent pneumonia
Also known as: CDG1; autosomal recessive chronic granulomatous disease cytochrome b-positive type I; chronic granulomatous disease due to deficiency of NCF-1; deficiency of NCF1; deficiency of SOC2