Conditions / Genetic
common variable immunodeficiency 13
info · Genetic
A common variable immunodeficiency that is characterized by recurrent bacterial infections, mainly affecting the respiratory tract, and associated with hypogammaglobulinemia and decreased numbers of B cells and that has_material_basis_in heterozygous mutation
A common variable immunodeficiency that is characterized by recurrent bacterial infections, mainly affecting the respiratory tract, and associated with hypogammaglobulinemia and decreased numbers of B cells and that has_material_basis_in heterozygous mutation in the IKZF1 gene on chromosome 7p12.
Signs and symptoms
- Polyhydramnios
- Fetal distress
- Pancytopenia
- Decreased circulating immunoglobulin concentration
- Combined immunodeficiency
- Decreased total B cell count
- Recurrent bacterial infections
- Acute lymphoblastic leukemia
- Recurrent viral infections
- Recurrent fungal infections