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Neutrophil extracellular traps formation driven by novel ELANE mutations in cyclic neutropenia patients.

Genes and immunity - 1 Aug 2026

Rutkowska-Zapała Magdalena, Gałuszka-Bulaga Adrianna, Plewka Jacek, Lenart Marzena, Kluczewska Anna, Surman Marta, Bukowska-Strakova Karolina, Rygielska Monika, Siemińska Izabela, Baran Katarzyna, Cichy Joanna, Skrzeczyńska-Moncznik Joanna, Baran Jarosław, Siedlar Maciej, Szaflarska Anna

Abstract excerpt

Cyclic neutropenia (CyN) is a rare haematological disorder most often caused by mutations in the neutrophil elastase gene (ELANE). We describe three novel ELANE mutations in CyN patients and link them to impaired neutrophil extracellular trap (NET) formation. ELANE sequencing was performed using the Sanger method, and AlphaFold2 was used to visualize the impact of mutations on the structure of neutrophil elastase...

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Identifiers

PMID: 42337056
DOI: 10.1038/s41435-026-00403-4

Genes

ELANE
MPO

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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