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Medicine (Baltimore). 2018 Mar;97(10):e0031. doi: 10.1097/MD.0000000000010031.

ELANE gene mutation-induced cyclic neutropenia manifesting as recurrent fever with oral mucosal ulcer: A case report.

Author information

1
Department of Pediatrics, First Hospital Affiliated to Bengbu Medical College, Bengbu Anhui, China.

Abstract

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.

CASE PRESENTATION:

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.

CONCLUSION:

Active prevention and treatment of infection as well as G-CSF therapy can successfully control CyN.

PMID:
29517659
PMCID:
PMC5882443
DOI:
10.1097/MD.0000000000010031
[Indexed for MEDLINE]
Free PMC Article

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