{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T15:12:03Z","timestamp":1789398723371,"version":"build-2803163510"},"reference-count":9,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2026,1,20]],"date-time":"2026-01-20T00:00:00Z","timestamp":1768867200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,1,20]],"date-time":"2026-01-20T00:00:00Z","timestamp":1768867200000},"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":["Clinical Genetics"],"published-print":{"date-parts":[[2026,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    <jats:italic>STEAP3<\/jats:italic>\n                    (Six\u2010transmembrane epithelial antigen of the prostate 3), a metalloreductase, plays a key role in various cell processes, including iron homeostasis, inflammation, and cancer promotion. Over a decade ago, researchers reported a single, heterozygous nonsense variant in\n                    <jats:italic>STEAP3<\/jats:italic>\n                    linked to transfusion\u2010dependent severe hypochromic anemia. However, a later large population study on\n                    <jats:italic>STEAP3<\/jats:italic>\n                    found no phenotypic red cell changes in heterozygous individuals. While the genotype and phenotype of\n                    <jats:italic>STEAP3<\/jats:italic>\n                    are tentatively established for hypochromic microcytic anemia with autosomal dominant inheritance (MIM: 615234), we describe an autosomal recessive form of\n                    <jats:italic>STEAP3<\/jats:italic>\n                    \u2010related neonatal familial hemophagocytic lymphohistiocytosis (HLH). We expanded the phenotype to include cytopenia and neonatal HLH. Our report on two affected male siblings highlights the expanded phenotype, clarifies the phenotypic spectrum of\n                    <jats:italic>STEAP3<\/jats:italic>\n                    , and broadens its genetic inheritance, ultimately providing a clinical and molecular workup for neonatal patients with unexplained HLH.\n                  <\/jats:p>","DOI":"10.1111\/cge.70141","type":"journal-article","created":{"date-parts":[[2026,1,20]],"date-time":"2026-01-20T12:04:43Z","timestamp":1768910683000},"page":"1055-1058","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Biallelic\n                    <i>STEAP3<\/i>\n                    Variant in Neonatal Hemophagocytic Lymphohistiocytosis"],"prefix":"10.1111","volume":"109","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0808-1859","authenticated-orcid":false,"given":"Abdullah H.","family":"Alfalah","sequence":"first","affiliation":[{"name":"Genomic Medicine Center of Excellence (GMCoE), King Faisal Specialist Hospital and Research Center  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamed Y.","family":"Elsaid","sequence":"additional","affiliation":[{"name":"King Faisal Specialist Hospital and Research Center  Medina Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmed","family":"Alrajjal","sequence":"additional","affiliation":[{"name":"King Faisal Specialist Hospital and Research Center  Medina Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniah","family":"Albokhari","sequence":"additional","affiliation":[{"name":"Taibah University, College of Medicine Woman and Child Health Department  Medina Saudi Arabia"},{"name":"Department of Pediatrics King Faisal Specialist Hospital &amp; Research Centre  Medina Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2357-2821","authenticated-orcid":false,"given":"Ebtissal","family":"Khouj","sequence":"additional","affiliation":[{"name":"Genomic Medicine Center of Excellence (GMCoE), King Faisal Specialist Hospital and Research Center  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Afshan","family":"Aziz","sequence":"additional","affiliation":[{"name":"Department of Pediatrics King Faisal Specialist Hospital &amp; Research Centre  Medina Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4222-0952","authenticated-orcid":false,"given":"Ahmed","family":"Alfares","sequence":"additional","affiliation":[{"name":"Genomic Medicine Center of Excellence (GMCoE), King Faisal Specialist Hospital and Research Center  Riyadh Saudi Arabia"},{"name":"College of Medicine, Alfaisal University  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2999-2229","authenticated-orcid":false,"given":"Sateesh","family":"Maddirevula","sequence":"additional","affiliation":[{"name":"Genomic Medicine Center of Excellence (GMCoE), King Faisal Specialist Hospital and Research Center  Riyadh Saudi Arabia"},{"name":"College of Medicine, Alfaisal University  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,1,20]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2007-11-120402"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2011-01-329011"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.04.011"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes16090992"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.09.001"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2015-09-670174"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.2024026243"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40170-024-00370-2"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2021.614704"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.70141","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.70141","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.70141","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T02:47:34Z","timestamp":1778640454000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.70141"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1,20]]},"references-count":9,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2026,6]]}},"alternative-id":["10.1111\/cge.70141"],"URL":"https:\/\/doi.org\/10.1111\/cge.70141","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1,20]]},"assertion":[{"value":"2025-11-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-01-08","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-01-20","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}