Conditions / Genetic
agammaglobulinemia 7
info ยท Genetic
An agammaglobulinemia that has_material_basis_in homozygous mutation in the PIK3R1 gene on chromosome 5q13.
Signs and symptoms
- Recurrent infections
- Erythema nodosum
- Decreased total neutrophil count
- Reduced total natural killer cell count
- Panhypogammaglobulinemia
- Agammaglobulinemia
- Recurrent respiratory infections
- Abnormal T cell morphology