Abstract
The term congenital neutropenia embrace a family neutropenic disorders, that can be permanent or intermittent, severe or pleasant, which can cause repercussions in other organ systems. Neutropenia can range from mild pyogenic infections to life-threatening sepsis, and each successive infection can leave permanent sequelae. The risk of infection is approximately inversely proportional to the circulating polymorphonuclear neutrophil count and is particularly high at counts below 0.2G/l. About half of the forms of congenital neutropenia, without extrahematopoietic manifestations and normal adaptive immunity, are due to mutations in neutrophil elastase. Some patients have severe permanent neutropenia and frequent infections early in life, while others have mild intermittent neutropenia. The difficulty in suspected diagnosis congenital neutropenia and, consequently, the time to start treatment can lead to infectious complications and put the patients’ life at risk.
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