GFI1 deficiency

Patients with GFI mutations present by age of three month recurrent bacterial infections. The most common sites of infection are the mouth and perirectum. The patients have also anemic symptoms (fatigue, weakness, dyspnea on exertion) and symptoms of thrombocytopenia (petechia, purpura, epistaxis).

Therapeutic options

  • Treatment with recombinant human granulocyte colony-stimulating factor (GCSF) elevates the granulocyte counts, helps resolve preexisting infections, diminishes the number of new infections and results in significant improvements in survival and quality of life. Some patients have developed leukemia or myelodysplastic syndrome following treatment with GCSF.
  • Kostmann disease, eMedicine