Email this article Genetic predictors of an unfavorable course of severe congenital neutropenia in patients with ELANE gene mutation
- Authors: Deordieva E.A.1, Varlamova T.V.1, Raikina E.V.1, Shcherbina A.Y.1
-
Affiliations:
- Federal Research Center of Pediatric Hematology, Oncology, and Immunology named after Dmitry Rogachev
- Issue: Vol 15, No 1 (2016)
- Pages: 41-45
- Section: ИММУНОЛОГИЯ
- Submitted: 19.09.2018
- Published: 19.03.2016
- URL: https://hemoncim.com/jour/article/view/147
- DOI: https://doi.org/10.24287/1726-1708-2016-15-1-41-45
- ID: 147
Cite item
Full Text
Abstract
Severe congenital neutropenia (SCN) is a rare genetically determined disease with disruption of granulocyte maturation in bone marrow, resulting in a high risk of life-threatening infections. The disease is caused by ELANE gene mutation in the majority (60-80%) of patients. Our study confirms the data of the Severe Congenital Neutropenia International Registry: we have demonstrated an association of ELANE gene mutations (in C151 and G214 positions) with a particularly severe disease course, manifesting by resistance to therapy with granulocyte colony-stimulating factor and the development of myelodysplastic syndrome.
Keywords
дети, врожденная нейтропения, циклическая нейтропения, мутация в гене ELANE, тяжесть течения, гранулоцитарный колониестимулирующий фактор, острый миелоидный лейкоз, миелодиспластический синдром, children, congenital neutropenia, cyclic neutropenia, ELANE gene mutation, severe course, granulocyte colony-stimulating factor, acute myeloid leukemia, myelodysplastic syndrome
About the authors
Ekaterina A. Deordieva
Federal Research Center of Pediatric Hematology, Oncology, and Immunology named after Dmitry Rogachev
Author for correspondence.
Email: deor2005@yandex.ru
Russian Federation
Tatyana V. Varlamova
Federal Research Center of Pediatric Hematology, Oncology, and Immunology named after Dmitry Rogachev
Email: varltatwell@mail.ru
Russian Federation
Elena V. Raikina
Federal Research Center of Pediatric Hematology, Oncology, and Immunology named after Dmitry Rogachev
Email: e_raikina@inbox.ru
Russian Federation
Anna Yu. Shcherbina
Federal Research Center of Pediatric Hematology, Oncology, and Immunology named after Dmitry Rogachev
Email: shcher26@hotmail.com
Russian Federation
References
Supplementary files
