West China Journal of Stomatology ›› 2020, Vol. 38 ›› Issue (4): 454-459.doi: 10.7518/hxkq.2020.04.018

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Mutations of the ELANE gene cause severe congenital neutropenia with periodontal disease: a case report

Chen Yang(), Wang Yan, Zhang Qiong, Zhang Yueming, Zou Jing()   

  1. State Key Laboratory of Oral Diseases & National Clinical Research Center for Oral Diseases & Dept. of Pediatric Dentistry, West China Hospital of Stomatology, Sichuan University, Chengdu 610041, China
  • Received:2019-08-27 Revised:2020-02-19 Online:2020-08-01 Published:2020-08-03
  • Contact: Zou Jing E-mail:zoujing1970@126.com
  • Supported by:
    International Science and Technology Innovation Cooperation Program of Science and Technology Department of Sichuan Province(2019YFH0025)


Severe congenital neutropenia is a rare disorder characterized by a consistently low absolute neutrophil count and periodontal disease. This report describes the case of an ELANE mutationin a patient with gingival bleeding and tooth mobility. Oral examination showed active periodontal infection of the primary dentition accompanied by alveolar bone loss in the posterior region. The patient was diagnosed with severe congenital neutropenia 1 year after multidisciplinary consultation. Treatment of the systemic disease and effective oral health education over a 3-year follow-up period relieved the periodontal infection and created favorable conditions for future repair.

Key words: severe congenital neutropenia, periodontal disease, ELANE gene

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