CYCLIC NEUTROPENIA

By Gary M. White, MD


In this hematologic disorder, there is a periodic decrease in the blood neutrophil count accompanied by oral ulcerations, malaise, and fever with a periodicity of approximately 21 days. Cutaneous infections (e.g. furuncles, abscess's) also occur. The cause is an AD inherited mutation in the ELANE gene (provides instructions for making a protein called neutrophil elastase, which is found in neutrophils).

Treatment

Referral to a specialist is in order.

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