Severe congenital neutropenias, including Kostmann syndrome

Severe neutropenia is brought to clinical attention after an initial infection, which typically occurs shortly after birth. Patients have temperature instability in newborn period, fever, irritability. Due to neutropenia, recurrent infections occur in various locations, mostly cutaneo-mucous, ENT (ear, nose, throught) and pulmonary. Stomatological signs appear after age 2, with erosive gingivitis, haemorrhage and pain, associated to papilla on the tongue and mucous membranes. Some patients can present myelodysplastic syndrome.

Therapeutic options

  • Treatment with recombinant human granulocyte colony-stimulating factor (GCSF) elevates the granulocyte counts, diminishes the number of new infections and improve survival and quality of life. Some patients develop leukemia or myelodysplastic syndrome. Bone marrow transplantation could be an option.
  • Kostmann disease, eMedicine