NDLI: ELANE gene mutation-induced cyclic neutropenia manifesting as recurrent fever with oral mucosal ulcer

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ELANE gene mutation-induced cyclic neutropenia manifesting as recurrent fever with oral mucosal ulcer

Content Provider	Semantic Scholar
Author	Chen, Xin Peng, Wansheng Zhang, Zhen Wu, Yumeng Zhang Binghan Xu, Jiali Zhou, Yan Chen, Li
Copyright Year	2018
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.
Starting Page	10
Ending Page	10
Page Count	1
File Format	PDF HTM / HTML
PubMed reference number	29517659v1
Alternate Webpage(s)	https://doi.org/10.1097/MD.0000000000010031
DOI	10.1097/MD.0000000000010031
Journal	Medicine
Volume Number	97
Language	English
Access Restriction	Open
Subject Keyword	Absolute neutrophil count Colony-Stimulating Factors Cyclic neutropenia ELANE gene Filgrastim Gene Mutation Hematologic Tests Hematological Disease Mucosal ulceration Neutrophil count (procedure) Oral mucous membrane structure Patients Relapsing Fever Stimulation (motivation) Ulcer granulocyte
Content Type	Text
Resource Type	Article

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