ELANE gene mutation-induced cyclic neutropenia manifesting as recurrent fever with oral mucosal ulcer: A case report.
Kata kunci
Abstrak
BACKGROUND
Cyclic neutropenia (CyN) is a rare hematological disease. Herein, a CyN girl, aged 3 years and 2 months, with recurrent fever and oral mucosal ulcer caused by neutrophil elastase (ELANE) gene mutation is reported.
METHODS
A 3 years and 2 months old girl presented with recurrent fever and oral mucosal ulcer for 1 year. Routine blood test revealed that her absolute neutrophil count repeatedly decreased (minimum 0. 04 × 10/L) every 21 days on an average. Gene testing showed that the patient suffered from ELANE gene heterozygous mutation (c.197T>G) (exon2) (p.M66R). She was finally diagnosed as CyN. The patient's symptoms were relieved after infection prevention and treatment as well as granulocyte-colony stimulating factor (G-CSF) therapy. Her condition continues to remain stable.
CONCLUSIONS
Active prevention and treatment of infection as well as G-CSF therapy can successfully control CyN.
