{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,5]],"date-time":"2026-11-05T17:35:59Z","timestamp":1793900159797,"version":"4.8.0"},"reference-count":53,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,4,14]],"date-time":"2026-04-14T00:00:00Z","timestamp":1776124800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Immunol."],"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      Childhood cyclic neutropenia (CN) is a rare hematopoietic disorder. We describe the clinical phenotype, diagnostic features, and management of a pediatric CN case caused by a\n                      <jats:italic>de novo<\/jats:italic>\n                      ELANE mutation, to improve clinical recognition and care.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We retrospectively analyzed clinical, laboratory, and genetic data from a 7-year-old girl with CN, combined with bioinformatics and literature review to explore genotype\u2013phenotype correlations and optimal therapy.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The patient presented with classic 21\u2212day cyclic episodes of fever, oral ulcers, and lymphadenopathy. Peripheral blood absolute neutrophil count (ANC) fell to 0.04\u00d710\n                      <jats:sup>9<\/jats:sup>\n                      \/L at nadir, accompanied by monocytosis. Whole\u2212exome sequencing identified a\n                      <jats:italic>de novo<\/jats:italic>\n                      heterozygous ELANE c.416C&amp;gt;T (p.Pro139Leu) variant. The Pro139 residue is highly conserved across species, and substitution is predicted to impair neutrophil elastase structure and function. The patient responded well to recombinant human granulocyte colony\u2212stimulating factor (rhG\u2212CSF) plus infection control and supportive care and is currently awaiting hematopoietic stem cell transplantation (HSCT).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      Pediatric CN features periodic fever and mucosal infection. Diagnosis requires both cyclic neutropenia documented by serial monitoring and pathogenic ELANE variant confirmation. rhG\u2212CSF remains first\u2212line therapy. Identification of this\n                      <jats:italic>de novo<\/jats:italic>\n                      c.416C&amp;gt;T variant broadens the genotypic spectrum of ELANE-related CN. Early and accurate diagnosis, individualized treatment, and long\u2212term follow\u2212up are critical to improve outcomes.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fimmu.2026.1815284","type":"journal-article","created":{"date-parts":[[2026,4,14]],"date-time":"2026-04-14T05:39:12Z","timestamp":1776145152000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["A case report of de novo ELANE c.416C&gt;T mutation causing cyclic neutropenia in a 7-year-old girl"],"prefix":"10.3389","volume":"17","author":[{"given":"Rongjie","family":"Chen","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Guangyuan Central Hospital","place":["Guangyuan, Sichuan, China"]},{"name":"Department of Pediatrics, Guangyuan Central Hospital Affiliated to North Sichuan Medical College","place":["Nanchong, Sichuan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhe","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Guangyuan Central Hospital","place":["Guangyuan, Sichuan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fu","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Guangyuan Central Hospital","place":["Guangyuan, Sichuan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,4,14]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2024.1474429","article-title":"Case report: A cyclic neutropenia patient with ELANE mutation accompanied by hemophagocytic lymphohistiocytosis","volume":"15","author":"Yu","year":"2024","journal-title":"Front Immunol"},{"key":"B2","doi-asserted-by":"publisher","first-page":"2059","DOI":"10.1182\/blood-2021-153783","article-title":"Spectrum of 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