1. Congenital neutropenia in the era of genomics: classification, diagnosis, and natural history / J. Donadieu, B. Beaupain, Odile Fenneteau et al. // British Journal of Haematology. - 2017. - Vol. 179 (4). - P. 557-574
2. Congenital neutropenia: diagnosis, molecular bases and patient management / J. Donadieu, O. Fenneteau, B. Beaupain at al. // Orphanet Journal of Rare Diseases. - 2011. - P. 6-26.
3. Dale, D.C. Cyclic and chronic neutropenia / D.C. Dale, K. Welte // Cancer Treatmennt and Research. - 2011. - Vol. 157. - P. 97-108
4. Sever congenital neutropenias / J. Skokowa, D.C. Dale, K. Welte et al. // Nature Reviews Disease Primers. - 2017. - Vol.8, №3. - P.17032
5. Welte, К. Severe congenital neutropenia / K. Welte, C. Zeidler // Hematoogy/Oncology Clinics of North America. - 2009. - Vol. 23 (2). - P. 307-320
6. Практическое руководство по детским болезням. Под_ред. В.Ф.Кококлиной и А.Г.Румянцева. Иммунология детского возраста. Под ред. А.Ю. Щербины и Е.Д. Пашанова. Медпрактика-М, 2006:191-197
7. Epidemiology of congenital neutropenia / J. Donadieu, B. Beaupain, N. Mahlaoui, C. Bellanne-Chantelot // Hematology/ Oncology Clinics of North America. - 2013. - Vol. 27 (1). - P.1-17.
8. Европейский регистр тяжёлой хронической нейтропении. Электронный ресурс. Доступ: http://www.severe-chronic - neutropenia.org/forms/Europ Prot. pdf
9. Xia, J. Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia / J. Xia, A.A. Bolyard, E. Rodger et al. // British Journal of Hematology. - 2009. - Vol.147 (4). - P. 535-542
10. Genetic analysis and clinical picture of severe congenital neutropenia in Israel / A. Lebel, J. Yacobovich, T. Krasnov et al. // Pediatric Blood & Cancer. - 2015. - Vol. 62 (1). - P. 103-108.
11. Borregaard, N. Severe congenital neutropenia: new lane for ELANE / N. Borregaard // Blood. -2014. - Vol. 123 (4). - P. 462 - 463
12. Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoformdependent genotype-phenotype associations / M. Germeshausen, M. Grudzien, C. Zeidler et al. // Blood. - 2008. - Vol. 111 (10). - P. 4954-4957
13. HAX1 mutations causing severe congenital neutropenia and neurological disease lead to cerebral microstructural abnormalities documented by quantitative MRI / K. Boztug, X.Q. Ding, H. Hartmann et al. // Am J Medical Genetics A. - 2010. - Vol. 152 (12). - P. 3157-3163
14. Severe developmental delay and epilepsy in a Japanese patient with severe congenital neutropenia due to HAX1 deficiency / K. Matsubara, K. Imai, S. Okada et al. // Haematologica. -2007. - Vol. 92 (12). - P. 123-125
15. HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease) / C. Klein, M. Grudzien, G. Appaswamy et al. // Nature Genetics. - 2007. - Vol. 39. - P. 86-92
16. GM-CSF stimulates granulopoiesis in a congenital neutropenia patient with loss-of-function biallelic heterozygous CSF3R mutations / M. Klimiankou, O. Klimenkova, M. Uenalan et al. // Blood. - 2015. - Vol. 126 (15). - P. 1865-1867
17. Novel point mutation in the extracellular domain of the granulocyte colony- stimulating factor (G-CSF) receptor in a case of severe congenital neutropenia hyporesponsive to G-CSF treatment / A.C. Ward, Y.M. van Aesch, J. Gits et al. // Journal of Experimental Medicine. - 1999. - Vol. 214, №12. - P. 497-507
18. Inherited biallelic CSF3R mutations in severe congenital neutropenia / A. Triot, P.M. Jarvinen, J.I. Arostegui et al. // Blood. - 2014. - Vol. 123 (24). - P. 3811-3817
19. Digenic Mutations In Severe Congenital Neutropenia / M.Germeshausen, C. Zeidler, M. Stuhrmann et al. // Haematologica. - 2010. - Vol. 95 (7). - P. 1207-1210
20. Li, F.Q. Characterization of mutant neutrophil elastase in severe congenital neutropenia / F.Q. Li, M. Horwitz // Joernal Biological Chemhemistry. - 2001. - Vol. 276 (17). - P. 14230-14241
21. Neutropenia-associated ELANE mutations disrupting translation initiation produce novel neutrophil elastase isoforms / T. Tidwell, J. Wechsler, R.C. Nayak et al. // Blood. - 2014. - Vol. 123 (4). - P. 562-569
22. Mutations of the ELA2 gene found in patients with severe congenital neutropenia induce the unfolded protein response and cellular apoptosis / D.S. Grenda, M. Marakami, J. Ghatak et al. // Blood. - 2007. - Vol. 110 (13). - P. 4179-4187
23. Activation of the unfolded protein response is associated with impaired granulopoiesis in transgenic mice expressing mutant Elane / S Nanuna, M. Murakami, J Xia et al. // Blood. - 2011. - Vol. 117 (13). - P. 3539-3547
24. ELANE mutant-specific activation of different UPR pathways in congenital neutropenia / R. Nustede, M. Klimankou, O. Klimankou et al. // British Journal of Haematology. - 2016. - Vol. 172 (2). - P. 219-227
25. Neutrophil elastase is severely down-regulated in severe congenital neutropenia independent of ELA2 or HAX1 mutations but dependent on LEF-1 / J. Skokowa, J.P. Fobiwe, L. Dan at al. // Blood. - 2009. - Vol. 114. - P. 3044-3051
26. Dysregulation of transcriptions in primary granule constituents during myeloid proliferation and differentiation in patients with severe congenital neutropenia / H. Kawaguchi, M. Kobayashi, K. Nakamura et al. // JLB Journal of Leukocyte Biology. - 2003. - Vol. 73 (2). - P. 225234