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. 2015 Jan 24:15:2.
doi: 10.1186/s12878-015-0020-x. eCollection 2015.

Severe congenital neutropenia caused by the ELANE gene mutation in a Vietnamese boy with misdiagnosis of tuberculosis and autoimmune neutropenia: a case report

Quang Van Vu  1 , Taizo Wada  2 , Tham Thi Tran  1 , Duc Ngoc Ngo  3 , Thuc Van Dinh  1 , Cuong Hung Nguyen  4 , Huong Thi Minh Le  5 , Akihiro Yachie  2 , Sang Ngoc Nguyen  1
Affiliations

Severe congenital neutropenia caused by the ELANE gene mutation in a Vietnamese boy with misdiagnosis of tuberculosis and autoimmune neutropenia: a case report

Quang Van Vu et al. BMC Hematol. .

Abstract

Background: Severe congenital neutropenia (SCN) is an immunodeficiency disease characterized low blood neutrophil counts, early bacterial infections, and risk of leukaemia development. Heterozygous mutations in the ELANE gene coding neutrophil elastase are associated with SCN. Patients with SCN suffer from recurrent bacterial infections and often succumb them. To our knowledge, this is the first report of SCN from Vietnam.

Case presentation: A 6-year-old boy was admitted due to severe bacterial infection and severe neutropenia. He had recurrent infections from 8 months of age, and was misdiagnosed with tuberculosis and and autoimmune neutropenia in infancy at 21 and 41 months of age, respectively. His medical report has showed severe neutropenia for many times. In direct DNA sequencing analysis, we found an ELANE gene mutation (R81P), which had been confirmed to cause SCN.

Conclusion: The missed and delayed diagnosis may be attributable to insufficient awareness of this rare disease on the background of frequent infections even in the immunocompetent pediatric population in Vietnam. Our results indicate further evidence for the role of ELANE in SCN.

Keywords: Autoimmune neutropenia; Congenital severe neutropenia; ELANE; Severe bacterial infection.

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Figures

Figure 1
Figure 1
A number of lesions caused by infection. (A) cutaneous abscess behind the right ear; (B) right parietal lobectomy; (C) fungal infection; (D) mouth ulcer.
Figure 2
Figure 2
Sequencing the genomic PCR products, heterozygous missense mutation (R81P)(G changing to C) was identified.
See this image and copyright information in PMC

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