{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T14:45:34Z","timestamp":1791816334712,"version":"4.3.4"},"reference-count":17,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T00:00:00Z","timestamp":1791763200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T00:00:00Z","timestamp":1791763200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Blood &amp; Cancer"],"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>VPS45 deficiency is an ultra\u2010rare autosomal recessive disorder causing severe congenital neutropenia, progressive bone marrow fibrosis, and multiorgan involvement. We report a 4\u2010year\u2010old patient with a novel homozygous VPS45 c.991C&gt;T, p.(His331Tyr) variant, presenting with transfusion\u2010refractory hypersplenism and horizontal nystagmus, whose course was further complicated by a laboratory\u2010confirmed Epstein\u2013Barr virus reactivation that subsequently resolved on repeat testing. An older sibling with the same diagnosis had died after failed hematopoietic stem cell transplantation. Management required double\u2010dose blood product transfusion and multidisciplinary evaluation for splenectomy prior to transplantation, illustrating practical challenges in advanced disease management.<\/jats:p>","DOI":"10.1002\/1545-5017.70761","type":"journal-article","created":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T13:53:27Z","timestamp":1791813207000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Novel VPS45 p.(His331Tyr) Variant Presenting With Severe Hypersplenism and Epstein\u2013Barr Virus Reactivation: A Case Report"],"prefix":"10.1002","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-5443-117X","authenticated-orcid":false,"given":"Hamza Haj","family":"Mohamad","sequence":"first","affiliation":[{"name":"Department of Pediatrics Al Jalila Children's Hospital (AJCH)  Dubai UAE"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zainab","family":"Suhail","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Al Jalila Children's Hospital (AJCH)  Dubai UAE"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maysa","family":"Saleh","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Al Jalila Children's Hospital (AJCH)  Dubai UAE"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1970-6930","authenticated-orcid":false,"given":"Lemis","family":"Yavuz","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Al Jalila Children's Hospital (AJCH)  Dubai UAE"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,10,12]]},"reference":[{"issue":"1","key":"e_1_2_12_2_1","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1056\/NEJMoa1301296","article-title":"A Congenital Neutrophil Defect Syndrome Associated With Mutations in VPS45","volume":"369","author":"Vilboux T.","year":"2013","journal-title":"New England Journal of Medicine"},{"issue":"25","key":"e_1_2_12_3_1","doi-asserted-by":"crossref","first-page":"5078","DOI":"10.1182\/blood-2012-12-475566","article-title":"The Thr224Asn Mutation in the VPS45 Gene Is Associated With the Congenital Neutropenia and Primary Myelofibrosis of Infancy","volume":"121","author":"Stepensky P.","year":"2013","journal-title":"Blood"},{"issue":"12","key":"e_1_2_12_4_1","doi-asserted-by":"crossref","first-page":"3214","DOI":"10.1002\/ajmg.a.37367","article-title":"Severe Congenital Neutropenia With Neurological Impairment due to a Homozygous VPS45 p.E238K Mutation: A Case Report Suggesting a Genotype\u2010phenotype Correlation","volume":"167","author":"Meerschaut I.","year":"2015","journal-title":"American Journal of Medical Genetics Part A"},{"issue":"8","key":"e_1_2_12_5_1","doi-asserted-by":"crossref","first-page":"820","DOI":"10.1111\/petr.12169","article-title":"VPS45\u2010Associated Primary Infantile Myelofibrosis: Successful Treatment With Hematopoietic Stem Cell Transplantation","volume":"17","author":"Stepensky P.","year":"2013","journal-title":"Pediatric Transplantation"},{"issue":"9","key":"e_1_2_12_6_1","doi-asserted-by":"crossref","DOI":"10.1002\/pbc.26571","article-title":"A Novel Homozygous VPS45 p.P468L Mutation Leading to Severe Congenital Neutropenia With Myelofibrosis","volume":"64","author":"Shah R. 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American Society of Hematology Annual Meeting [abstract]","volume":"142","author":"Ueki M.","year":"2023","journal-title":"Blood"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.70962\/CIS2025abstract.145"},{"issue":"1","key":"e_1_2_12_13_1","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1182\/hematology.2020000117","article-title":"Preventing Infections in Children and Adults With Asplenia","volume":"2020","author":"Lee G. M.","year":"2020","journal-title":"Hematology"},{"issue":"5","key":"e_1_2_12_14_1","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards S.","year":"2015","journal-title":"Genetics in Medicine"},{"issue":"5","key":"e_1_2_12_15_1","doi-asserted-by":"crossref","first-page":"572","DOI":"10.5005\/jp-journals-10005-1841","article-title":"Periodontal Disease in Two Siblings With VPS45\u2010Associated Severe Congenital Neutropenia Type V: A Case Report","volume":"13","author":"Alotaibi F. 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