{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:45:38Z","timestamp":1787013938559,"version":"build-2736575974"},"reference-count":14,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2023,8,23]],"date-time":"2023-08-23T00:00:00Z","timestamp":1692748800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Br J Haematol"],"published-print":{"date-parts":[[2023,11]]},"abstract":"<jats:title>Summary<\/jats:title>\n                  <jats:p>\n                    Colony\u2010stimulating factor 3 (CSF3) is a key factor in neutrophil production and function, and recombinant forms have been used clinically for decades to treat congenital and acquired neutropenia. Although biallelic inactivation of its receptor CSF3R is a well\u2010established cause of severe congenital neutropenia (SCN), no corresponding Mendelian disease has been ascribed to date to CSF3. Here, we describe three patients from two families each segregating a different biallelic inactivating variant in\n                    <jats:italic>CSF3<\/jats:italic>\n                    with SCN. Complete deficiency of CSF3 as a result of nonsense\u2010mediated decay (NMD) could be demonstrated on RT\u2010PCR using skin fibroblasts\u2010derived RNA. The phenotype observed in this cohort mirrors that documented in mouse and zebrafish models of CSF3 deficiency. Our results suggest that CSF3 deficiency in humans causes a novel autosomal recessive form of SCN.\n                  <\/jats:p>","DOI":"10.1111\/bjh.19054","type":"journal-article","created":{"date-parts":[[2023,8,23]],"date-time":"2023-08-23T21:19:01Z","timestamp":1692825541000},"page":"477-480","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Human \u2018knockouts\u2019 of\n                    <i>CSF3<\/i>\n                    display severe congenital neutropenia"],"prefix":"10.1111","volume":"203","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2357-2821","authenticated-orcid":false,"given":"Ebtissal","family":"Khouj","sequence":"first","affiliation":[{"name":"Department of Translational Genomics, Center for Genomic Medicine King Faisal Specialist Hospital and Research Center  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dana","family":"Marafi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine Kuwait University  Safat Kuwait"},{"name":"Department of Pediatrics Adan Hospital, Ministry of Health  Hadiya Kuwait"},{"name":"Kuwait Medical Genetics Centre Ministry of Health  Sulaibikhat Kuwait"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bayan","family":"Aljamal","sequence":"additional","affiliation":[{"name":"Department of Translational Genomics, Center for Genomic Medicine King Faisal Specialist Hospital and Research Center  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anwar","family":"Hajiya","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Adan Hospital, Ministry of Health  Hadiya Kuwait"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reem M.","family":"Elshafie","sequence":"additional","affiliation":[{"name":"Kuwait Medical Genetics Centre Ministry of Health  Sulaibikhat Kuwait"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mais O.","family":"Hashem","sequence":"additional","affiliation":[{"name":"Department of Translational Genomics, Center for Genomic Medicine King Faisal Specialist Hospital and Research Center  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Firdous","family":"Abdulwahab","sequence":"additional","affiliation":[{"name":"Department of Translational Genomics, Center for Genomic Medicine King Faisal Specialist Hospital and Research Center  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amal","family":"Jaafar","sequence":"additional","affiliation":[{"name":"Department of Translational Genomics, Center for Genomic Medicine King Faisal Specialist Hospital and Research Center  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tarfa","family":"Alshidi","sequence":"additional","affiliation":[{"name":"Department of Translational Genomics, Center for Genomic Medicine King Faisal Specialist Hospital and Research Center  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashraf H.","family":"Aboelanine","sequence":"additional","affiliation":[{"name":"Kuwait Medical Genetics Centre Ministry of Health  Sulaibikhat Kuwait"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ali","family":"Awaji","sequence":"additional","affiliation":[{"name":"Genetic Center Prince Mohammed bin Nasser Hospital  Jazan Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4158-341X","authenticated-orcid":false,"given":"Fowzan S.","family":"Alkuraya","sequence":"additional","affiliation":[{"name":"Department of Translational Genomics, Center for Genomic Medicine King Faisal Specialist Hospital and Research Center  Riyadh Saudi 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Haematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/bjh.19054","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T06:59:01Z","timestamp":1698044341000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/bjh.19054"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,8,23]]},"references-count":14,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2023,11]]}},"alternative-id":["10.1111\/bjh.19054"],"URL":"https:\/\/doi.org\/10.1111\/bjh.19054","archive":["Portico"],"relation":{},"ISSN":["0007-1048","1365-2141"],"issn-type":[{"value":"0007-1048","type":"print"},{"value":"1365-2141","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,8,23]]},"assertion":[{"value":"2023-06-12","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication 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