{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T10:21:00Z","timestamp":1774520460248,"version":"3.50.1"},"reference-count":26,"publisher":"BMJ","issue":"2","funder":[{"DOI":"10.13039\/501100004396","name":"Thailand Research Fund","doi-asserted-by":"publisher","award":["BRG5980001"],"award-info":[{"award-number":["BRG5980001"]}],"id":[{"id":"10.13039\/501100004396","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004396","name":"Thailand Research Fund","doi-asserted-by":"publisher","award":["DPG6180001"],"award-info":[{"award-number":["DPG6180001"]}],"id":[{"id":"10.13039\/501100004396","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004776","name":"Faculty of Medicine, Chulalongkorn University","doi-asserted-by":"publisher","award":["RA59\/010"],"award-info":[{"award-number":["RA59\/010"]}],"id":[{"id":"10.13039\/501100004776","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Clin Pathol"],"accepted":{"date-parts":[[2020,11,12]]},"published-print":{"date-parts":[[2022,2]]},"abstract":"<jats:sec>\n                    <jats:title>Aims<\/jats:title>\n                    <jats:p>Congenital neutropaenia is a rare inherited disorder that mainly affects neutrophils causing severe infection. Mutations in several genes have been implicated in the disease pathogenesis. The genetic defects may vary in different populations, influenced by ethnicity and geographical location. Here we describe the clinical and genotypic characteristics of seven unrelated Thai cases with congenital neutropaenia.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Seven unrelated patients with congenital neutropaenia were enrolled (5 female and 2 male) at King Chulalongkorn Memorial Hospital, Bangkok, Thailand. Clinical and laboratory data were collected. Whole exome sequencing (WES) analysis was performed in all cases.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      WES successfully identified disease-causing mutations in the\n                      <jats:italic>ELANE<\/jats:italic>\n                      gene in all cases, including two novel ones: a heterozygous 12\u2009base pair (bp) inframe insertion (c.289_300dupCAGGTGTTCGCC; p.Q97_A100dup) and a heterozygous 18\u2009bp inframe deletion (c.698_715delCCCCGGTGGCACAGTTTG; p.A233_F238delAPVAQF). Five other previously described\n                      <jats:italic>ELANE<\/jats:italic>\n                      mutations (p.Arg103Pro, p.Gly214Arg, p.Trp241X, p.Ser126Leu and p.Leu47Arg) were also detected.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      All Thai patients with congenital neutropaenia in this study harboured causative mutations in the\n                      <jats:italic>ELANE<\/jats:italic>\n                      gene, suggesting it the most common associated with the disease. Two novel mutations were also identified, expanding the genotypic spectrum of\n                      <jats:italic>ELANE<\/jats:italic>\n                      .\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1136\/jclinpath-2020-207139","type":"journal-article","created":{"date-parts":[[2020,12,16]],"date-time":"2020-12-16T20:25:22Z","timestamp":1608150322000},"page":"99-103","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":4,"title":["Clinical and molecular characteristics of Thai patients with\n                    <i>ELANE-<\/i>\n                    related neutropaenia"],"prefix":"10.1136","volume":"75","author":[{"given":"Rungnapa","family":"Ittiwut","sequence":"first","affiliation":[{"name":"Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand"},{"name":"Center of Excellence for Medical Genomics, Medical Genomics 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Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vorasuk","family":"Shotelersuk","sequence":"additional","affiliation":[{"name":"Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand"},{"name":"Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1097-3482","authenticated-orcid":false,"given":"Darintr","family":"Sosothikul","sequence":"additional","affiliation":[{"name":"Division of Pediatric Hematology\/Oncology, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, 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