Conditions / Genetic
autosomal recessive chronic granulomatous disease 5
info · Genetic
A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CYBC1 gene on chromosome 17q25.
Signs and symptoms
- Pleural effusion
- Short stature
- Decreased total lymphocyte count
- Lymphadenopathy
- Fever
- Recurrent pneumonia
- Splenomegaly
- Abscess
- Decreased neutrophil oxidative burst
- Granuloma