Conditions / Genetic
common variable immunodeficiency 12
info · Genetic
A common variable immunodeficiency that is characterized by recurrent infections and associated with hypogammaglobulinemia and that has_material_basis_in heterozygous mutation in the NFKB1 gene on chromosome 4q24.
Signs and symptoms
- Combined immunodeficiency
- Decreased circulating immunoglobulin concentration
- Recurrent infections
- Recurrent pneumonia
- Chronic pulmonary obstruction
- Alopecia
- Recurrent sinusitis
- Thrombocytopenia
- Recurrent sinopulmonary infections
- Bronchiectasis