Conditions / Genetic
agammaglobulinemia 8B
info · Genetic
An agammaglobulinemia that is characterized by onset of recurrent infections in early childhood and that has_material_basis_in homozygous loss-of-function mutation in the TCF3 gene on chromosome 19p13.
Signs and symptoms
- Decreased circulating IgE concentration
- Everted upper lip vermilion
- Partial absence of specific antibody response to tetanus vaccine
- Increased effector memory CD8+ T cell proportion
- Prominent stem of antihelix
- Anemia
- Hypertelorism
- Decreased CD8+ TEMRA T cell proportion
- Overfolded helix
- Decreased circulating IgM concentration