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

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 suff...

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Détails bibliographiques
Publié dans:BMC Hematol
Auteurs principaux: Vu, Quang Van, Wada, Taizo, Tran, Tham Thi, Ngo, Duc Ngoc, Van Dinh, Thuc, Nguyen, Cuong Hung, Le, Huong Thi Minh, Yachie, Akihiro, Nguyen, Sang Ngoc
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2015
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Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4335412/
https://ncbi.nlm.nih.gov/pubmed/25705433
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12878-015-0020-x
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