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Ilaria Lazzareschi
Elena Rossi
Antonietta Curatola
Giovanna Capozio
Luca Benacquista
Ludovica Iezzi
Donato Rigante


Congenital neutropenia, cyclic neutropenia, myelopoiesis, neutrophil elastase, periodic fever, autoinflammation, PFAPA syndrome, innovative biotechnologies, granulocyte-colony stimulating factor, personalized medicine


A disparate group of rare hematological diseases characterized by impaired maturation of neutrophil granulocytes defines congenital neutropenias. Neutropenic patients are prone to recurrent infections beginning in the first months of life. Of interest is “cyclic neutropenia”, an ultra-rare disorder revealed by sinusoidal variations of the neutrophil count and periodically-recurring infections every 21 days. Diagnosis of these disorders is frequently obscured by the multiple causes of recurrent fevers in children. Aim of this overview is to outline the physical assessment of children presenting with early-onset symptomatic neutropenia, identify the disease between the many medical conditions and even emergencies which should enter in differential diagnosis, hint at the potential management with granulocyte-colony stimulating factor, define the risk of evolution to hematologic malignancy, and summarize inter-professional team strategies for improving care coordination and outcomes of such patients.


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