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