Conditions / Genetic
autosomal recessive chronic granulomatous disease 2
info · Genetic
A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF2 gene on chromosome 1q25.
Signs and symptoms
- Pulmonary nodule
- Cervical lymphadenopathy
- Axillary lymphadenopathy
- Mediastinal lymphadenopathy
- Recurrent infections
- Decreased neutrophil oxidative burst
- Inflammation of the large intestine
- Recurrent abscess formation
- Discoid lupus rash
- Recurrent Escherichia coli infection
Also known as: CDG2; autosomal recessive chronic granulomatous disease cytochrome b-positive type II; chronic granulomatous disease due to deficiency of NCF-2; deficiency of NCF2; deficiency of p67-PHOX