Conditions / Genetic
autosomal recessive chronic granulomatous disease 3
info · Genetic
A chronic granulomatous disease characterized by that autosomal recessive inheritance has_material_basis_in mutation in the NCF4 gene on chromosome 22q12.
Signs and symptoms
- Diarrhea
- Elevated erythrocyte sedimentation rate
- Colitis
- Perioral eczema
- Recurrent aphthous stomatitis
- Abdominal pain
- Anoperineal fistula
- Elevated circulating C-reactive protein concentration
- Recurrent infections
- Recurrent sinusitis
Also known as: CDG3; autosomal recessive chronic granulomatous disease cytochrome b-positive type III; autosomal recessive cytochrome b-positive CGD type III; chronic granulomatous disease due to NCF4 deficiency