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

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.

• Authors: Xin Chen, Wansheng Peng, Zhen Zhang, Yumeng Wu, Jiali Xu, Yan Zhou, Li Chen
• Journal: Medicine (Medicine (Baltimore)) Vol. 97 Issue 10 Pg. e0031 (Mar 2018) ISSN: 1536-5964 [Electronic] United States
• PMID: 29517659 (Publication Type: Case Reports, Journal Article)

Chemical References

• Granulocyte Colony-Stimulating Factor
• Leukocyte Elastase

Topics

• Child, Preschool
• Female
• Fever (etiology)
• Genetic Testing (methods)
• Granulocyte Colony-Stimulating Factor (therapeutic use)
• Humans
• Leukocyte Count
• Leukocyte Elastase (genetics)
• Mouth Mucosa
• Mutation
• Neutropenia (diagnosis, drug therapy, genetics)
• Oral Ulcer (etiology)
• Recurrence