ORIGINAL RESEARCH article
Front. Immunol.
Sec. Primary Immunodeficiencies
The genetic landscape of congenital neutropenia in Poland – summary of the nationwide screening campaign
Provisionally accepted
Katarzyna Bąbol-Pokora1*
Weronika Dobrewa1Marta Bielska1
Szymon Janczar1
Joanna Madzio1Aleksandra Jaworowska1
Sylwia Koltan2Marcin Hennig3
Joanna Renke3Iwona Dachowska-Kałwak4
Magdalena Cienkusz5
Wojciech Mlynarski1- 1Department of Pediatrics, Oncology and Hematology, Medical University of Lodz, Łódź, Poland
- 2Department of Pediatrics, Hematology and Oncology, Uniwersytet Mikolaja Kopernika w Toruniu Collegium Medicum im Ludwika Rydygiera w Bydgoszczy, Bydgoszcz, Poland
- 3Department of Pediatrics, Hematology and Oncology,, Gdanski Uniwersytet Medyczny, Gdańsk, Poland
- 4Clinical Department of Pediatric Bone Marrow Transplantation, Uniwersytet Medyczny im Piastow Slaskich we Wroclawiu, Wrocław, Poland
- 5Department of Hematology, Oncology and Transplantology, Uniwersytet Medyczny w Lublinie, Lublin, Poland
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This work summarizes 15 years of genetic research on neutropenia in the Polish pediatric cohort, explores the distribution and spectrum of disease-causing genetic variants associated with congenital neutropenia in Poland, and demonstrates the impact of a nationwide information campaign on increasing the efficiency of patient recruitment. The study included 126 patients with suspected congenital neutropenia recruited in 2008-2019 and 291 patients recruited in 2020-2023 as part of the FixNet project, which featured a nationwide information campaign. Molecular analyses were performed using Sanger sequencing (91 patients) and targeted next generation sequencing (NGS) (326 patients) in a panel of neutropenia-related genes. The information campaign significantly increased the number of referred patients from 10.5 per year to 72.75 per year. Based on the results obtained, 102 patients belonging to 80 different families were diagnosed with SCN and neutropenia-related syndromes, the majority (43%) of whom harbored variants in the ELANE gene including 12 novel ones. Most of the remaining cases were SBDS, CLPB, SRP54 and CXCR4 gene defects. This work describes the largest cohort of genetic variations associated with suspected CN in Poland and is an important contribution to the international SCN registry.
Keywords: ELANE, Neutropenia, NGS, SBDs, Immunodeficiences, CYN, SCN
Received: 18 Aug 2025; Accepted: 03 Nov 2025.
Copyright: © 2025 Bąbol-Pokora, Dobrewa, Bielska, Janczar, Madzio, Jaworowska, Koltan, Hennig, Renke, Dachowska-Kałwak, Cienkusz and Mlynarski. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Katarzyna Bąbol-Pokora, katarzyna.babol-pokora@umed.lodz.pl
Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.