Novel ELANE mutation causing severe congenital neutropenia with unpredictable fluctuations in neutrophil counts

Pediatric Blood & CancerVolume 70, Issue 11 e30640 LETTER TO THE EDITOR Novel ELANE mutation causing severe congenital neutropenia with unpredictable fluctuations in neutrophil counts Joanna Cachia, Corresponding Author Joanna Cachia [email protected] orcid.org/0000-0003-3114-3277 Department of Child and Adolescent Health, Mater Dei Hospital, Triq id-Donaturi tad-Demm, Msida, Malta Correspondence Joanna Cachia, Department of Child and Adolescent Health, Mater Dei Hospital, Triq id-Donaturi tad-Demm, Msida, MSD 2090, Malta. Email: [email protected]Search for more papers by this authorDavid J. Camilleri, David J. Camilleri Department of Haematology, Sir Anthony Mamo Oncology Centre, Triq id-Donaturi tad-Demm, Msida, MaltaSearch for more papers by this authorDavid Pace, David Pace Department of Child and Adolescent Health, Mater Dei Hospital, Triq id-Donaturi tad-Demm, Msida, MaltaSearch for more papers by this author Joanna Cachia, Corresponding Author Joanna Cachia [email protected] orcid.org/0000-0003-3114-3277 Department of Child and Adolescent Health, Mater Dei Hospital, Triq id-Donaturi tad-Demm, Msida, Malta Correspondence Joanna Cachia, Department of Child and Adolescent Health, Mater Dei Hospital, Triq id-Donaturi tad-Demm, Msida, MSD 2090, Malta. Email: [email protected]Search for more papers by this authorDavid J. Camilleri, David J. Camilleri Department of Haematology, Sir Anthony Mamo Oncology Centre, Triq id-Donaturi tad-Demm, Msida, MaltaSearch for more papers by this authorDavid Pace, David Pace Department of Child and Adolescent Health, Mater Dei Hospital, Triq id-Donaturi tad-Demm, Msida, MaltaSearch for more papers by this author First published: 19 August 2023 https://doi.org/10.1002/pbc.30640Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. REFERENCES 1Fadeel B, Garwicz D, Carlsson G, Sandstedt B, Nordenskjöld M. Kostmann disease and other forms of severe congenital neutropenia. Acta Paediatr. 2021; 110: 2912-2920. doi:10.1111/apa.16005 2Carlsson G, Fasth A, Berglöf E, et al. Incidence of severe congenital neutropenia in Sweden and risk of evolution to myelodysplastic syndrome/leukaemia. Br J Haematol. 2012; 158(3): 363-369. doi:10.1111/j.1365-2141.2012.09171.x 3Ancliff PJ, Gale RE, Liesner R, Hann IM, Linch DC. Mutations in the ELA2 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): 2645-2650. doi:10.1182/blood.V98.9.2645 4Germeshausen 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): 905-914. doi:10.1002/humu.22308 5Makaryan V, Zeidler C, Bolyard AA, et al. The diversity of mutations and clinical outcomes for ELANE-associated neutropenia. Curr Opin Hematol. 2015; 22(1): 3-11. doi:10.1097/MOH.0000000000000105 6Horwitz MS, Corey SJ, Grimes HL, Tidwell T. ELANE mutations in cyclic neutropenia and severe congenital neutropenia: genetics and pathophysiology. Hematol Oncol Clin Noth Am. 2013; 27(1): 19-41. Volume70, Issue11November 2023e30640 ReferencesRelatedInformation