Conditions / Genetic
common variable immunodeficiency 8
info · Genetic
A common variable immunodeficiency that has_material_basis_in homozygous mutation in the LRBA gene on chromosome 4q31.
Signs and symptoms
- Persistently decreased total neutrophil count
- Recurrent infections
- Sepsis
- Decreased class-switched memory B cell proportion
- Erythema nodosum
- Pneumonia
- Generalized lymphadenopathy
- Recurrent respiratory infections
- Thrombocytopenia
- Splenomegaly
Also known as: common variable immunodeficiency-8 (CVID8) with autoimmunity