Conditions / Genetic
agammaglobulinemia 2
info ยท Genetic
An agammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the immunoglobulin lambda-like-1 gene (IGLL1) on chromosome 22q11.
Signs and symptoms
- Decreased circulating IgM concentration
- Absent circulating B cells
- Recurrent otitis media
- Decreased circulating IgA concentration
- Meningitis
- Agammaglobulinemia
- Recurrent bacterial infections
- Recurrent pneumonia
- Recurrent respiratory infections
- Abnormal T cell morphology