BOALA KOSTMANN LA COPIL

Kostmann’s disease (KD) is a severecongenital neutropenia, a rare autosomal recessive disorder of neutrophil number. Completeblood count with differential reveals an ANC less than 500/mm3, as seen in classic cases,monocytosis and eosinophilia. Bone marrow aspiration or biopsy reveals an arrest of neutrophilprecursor maturation at the promielocyte or myelocyte level. KD results in an increasedsusceptibility to frequent bacterial infections. In the absence of medical intervention withgranulocyte colony-stimulating factor (G-CSF), bone marrow transplantation, the mortality rateis 70% within the first year of life. We present three cases to illustrate this rare entity, thedifficulty of diagnosis, but also to underline the importance of correct treatment.