Donadieu J, Beaupain B, Mahlaoui N. Bellanné-Chantelot, C. Epidemiology of Congenital Neutropenia. Hematology-Oncology Clin North Am. 2013;27(1):1–17.

Article  Google Scholar 

Carlsson G, Fasth A, Berglöf E, Lagerstedt-Robinson K, Nordenskjöld M, Palmblad J, et al. Incidence of severe congenital neutropenia in Sweden and risk of evolution to myelodysplastic syndrome/leukaemia. Br J Haematol. 2012;158(3):363–69.

Article  PubMed  Google Scholar 

Ancliff PJ. Congenital neutropenia. Blood Rev. 2003;17(4):209–16.

Article  PubMed  Google Scholar 

Skokowa J, Germeshausen M, Zeidler C, Welte K. Severe congenital neutropenia: inheritance and pathophysiology. Curr Opin Hematol. 2007;14(1):22–8.

Article  PubMed  Google Scholar 

Arun AK, Senthamizhselvi A, Hemamalini S, Edison ES, Korula A, Fouzia NA, et al. Spectrum of mutations in congenital neutropenia: a single-centre study in patients of Indian origin. J Clin Pathol. 2018;71(12):1046–50.

Article  CAS  PubMed  Google Scholar 

Hong CW. Current understanding in Neutrophil differentiation and heterogeneity. Immune Netw. 2017;17(5):298–306.

Article  PubMed  PubMed Central  Google Scholar 

Bellanné-Chantelot C, Clauin S, Leblanc T, Cassinat B, Rodrigues-Lima F, Beaufils S, et al. Mutations in the gene correlate with more severe expression of neutropenia:: a study of 81 patients from the French Neutropenia Register. Blood. 2004;103(11):4119–25.

Article  PubMed  Google Scholar 

Dale DC, Bolyard AA, Aprikyan A. Cyclic neutropenia. Semin Hematol. 2002;39(2):89–94.

Article  CAS  PubMed  Google Scholar 

Dale DC, Cottle TE, Fier CJ, Bolyard AA, Bonilla MA, Boxer LA, et al. Severe chronic neutropenia: treatment and follow-up of patients in the severe chronic neutropenia international registry. Am J Hematol. 2003;72(2):82–93.

Article  PubMed  Google Scholar 

Rosenberg PS, Zeidler C, Bolyard AA, Alter BP, Bonilla MA, Boxer LA, et al. Stable long-term risk of leukaemia in patients with severe congenital neutropenia maintained on G-CSF therapy. Br J Haematol. 2010;150(2):196–99.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ancliff PJ, Gale RE, Liesner R, Hann IM, Linch DC. Mutations in the gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease. Blood. 2001;98(9):2645–50.

Article  CAS  PubMed  Google Scholar 

Dale DC, Person RE, Bolyard AA, Aprikyan AG, Bos C, Bonilla MA, et al. Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. Blood. 2000;96(7):2317–22.

Article  CAS  PubMed  Google Scholar 

Horwitz MS, Corey SJ, Grimes HL, Tidwell T. Mutations in cyclic and severe congenital Neutropenia Genetics and Pathophysiology. Hematology-Oncology Clin North Am. 2013;27(1):19–41.

Article  Google Scholar 

Germeshausen M, Deerberg S, Peter Y, Reimer C, Kratz CP, Ballmaier M. The spectrum of ELANE mutations and their implications in severe congenital and cyclic Neutropenia. Hum Mutat. 2013;34(6):905–14.

Article  CAS  PubMed  Google Scholar 

Köllner I, Socleik B, Schreek S, Heyn H, von Neuhoff N, Germeshausen M, et al. Mutations in neutrophil elastase causing congenital neutropenia lead to cytoplasmic protein accumulation and induction of the unfolded protein response. Blood. 2006;108(2):493–500.

Article  PubMed  Google Scholar 

Grenda DS, Murakami M, Ghatak J, Xia J, Boxer LA, Dale D, et al. Mutations of the gene found in patients with severe congenital neutropenia induce the unfolded protein response and cellular apoptosis. Blood. 2007;110(13):4179–87.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Tidwell T, Wechsler J, Nayak RC, Trump L, Salipante SJ, Cheng JC, et al. Neutropenia-associated mutations disrupting translation initiation produce novel neutrophil elastase isoforms. Blood. 2014;123(4):562–69.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Rydzynska Z, Pawlik B, Krzyzanowski D, Mlynarski W, Madzio J. Neutrophil elastase defects in congenital Neutropenia. Front Immunol (2021) 12653932.

Carlsson G, Wahlin YB, Johansson A, Olsson A, Eriksson T, Claesson R, et al. Periodontal disease in patients from the original Kostmann family with severe congenital neutropenia. J Periodontol. 2006;77(4):744–51.

Article  PubMed  Google Scholar 

Germeshausen M, Grudzien M, Zeidler C, Abdollahpour H, Yetgin S, Rezaei N, et al. Novel mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations. Blood. 2008;111(10):4954–57.

Article  CAS  PubMed  Google Scholar 

Matsubara K, Imai K, Okada S, Miki M, Ishikawa N, Tsumura M, et al. Severe developmental delay and epilepsy in a Japanese patient with severe congenital neutropenia due to HAX1 deficiency. Haematologica. 2007;92(12):E123–25.

Article  CAS  PubMed  Google Scholar 

Nanua S, Murakami M, Xia J, Grenda DS, Woloszynek J, Strand M, et al. Activation of the unfolded protein response is associated with impaired granulopoiesis in transgenic mice expressing mutant. Blood. 2011;117(13):3539–47.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Nustede R, Klimiankou M, Klimenkova O, Kuznetsova I, Zeidler C, Welte K, et al. ELANE mutant-specific activation of different UPR pathways in congenital neutropenia. Br J Haematol. 2016;172(2):219–27.

Article  CAS  PubMed  Google Scholar 

Nayak RC, Trump LR, Aronow BJ, Myers K, Mehta P, Kalfa T, et al. Pathogenesis of ELANE-mutant severe neutropenia revealed by induced pluripotent stem cells. J Clin Invest. 2015;125(8):3103–16.

Article  PubMed  PubMed Central  Google Scholar 

Skokowa J, Dale DC, Touw IP, Zeidler C, Welte K. Severe congenital neutropenias. Nat Reviews Disease Primers (2017) 317032.

Zeidler A, Borbaran-Bravo N, Dannenmann B, Ritter M, Nasri M, Klimiankou M, et al. Differential transcriptional control of hematopoiesis in congenital and cyclic neutropenia patients harboring ELANE mutations. Haematologica. 2024;109(5):1393–402.

CAS  PubMed  Google Scholar 

Makaryan V, Zeidler C, Bolyard AA, Skokowa J, Rodger E, Kelley ML, et al. The diversity of mutations and clinical outcomes for ELANE-associated neutropenia. Curr Opin Hematol. 2015;22(1):3–11.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Newburger PE, Pindyck TN, Zhu ZQ, Bolyard AA, Aprikyan AAG, Dale DC, et al. Cyclic neutropenia and severe congenital Neutropenia in patients with a Shared ELANE Mutation and Paternal Haplotype: evidence for phenotype determination by modifying genes. Pediatr Blood Cancer. 2010;55(2):314–17.

Article  PubMed  PubMed Central  Google Scholar 

Boxer LA, Stein S, Buckley D, Bolyard AA, Dale DC. Strong evidence for autosomal dominant inheritance of severe congenital neutropenia associated with mutations. J Pediatr. 2006;148(5):633–36.

Article  CAS  PubMed  Google Scholar