{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,3]],"date-time":"2026-07-03T21:25:09Z","timestamp":1783113909374,"version":"3.54.6"},"reference-count":25,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2026,5,9]],"date-time":"2026-05-09T00:00:00Z","timestamp":1778284800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,5,9]],"date-time":"2026-05-09T00:00:00Z","timestamp":1778284800000},"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;amp; Cancer"],"published-print":{"date-parts":[[2026,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Diamond\u2013Blackfan anemia is a rare congenital erythroblastopenia typically caused by mutations in ribosomal protein genes. Recently, gain\u2010of\u2010function mutations in\n                    <jats:italic>TP53<\/jats:italic>\n                    have been identified as a novel cause of Diamond\u2013Blackfan anemia. We report two French patients who both harbored a heterozygous\n                    <jats:italic>TP53<\/jats:italic>\n                    deletion (NM_000546.5: c.1077delA; p.(Ser362AlafsTer8)). They exhibited normocytic anemia, transient neutropenia at presentation, and distinct neurological impairments. Neither patient responded to a corticosteroid trial. One patient underwent hematopoietic stem cell transplantation from a matched sibling donor and remained transfusion\u2010independent at last follow\u2010up. This study emphasizes the complexity of\n                    <jats:italic>TP53<\/jats:italic>\n                    \u2010associated Diamond\u2013Blackfan anemia syndrome and presents the only patient to date cured by hematopoietic stem cell transplantation.\n                  <\/jats:p>","DOI":"10.1002\/1545-5017.70363","type":"journal-article","created":{"date-parts":[[2026,5,9]],"date-time":"2026-05-09T07:06:29Z","timestamp":1778310389000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Germline\n                    <i>TP53<\/i>\n                    Mutations Causing Diamond\u2013Blackfan Anemia: A French Report"],"prefix":"10.1002","volume":"73","author":[{"ORCID":"https:\/\/orcid.org\/0009-0008-2564-8766","authenticated-orcid":false,"given":"Rafael","family":"Moisan","sequence":"first","affiliation":[{"name":"Hematology Pediatric Department CHU Lille  Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lydie","family":"Da Costa","sequence":"additional","affiliation":[{"name":"Hematology Diagnostic Lab AP\u2010HP, Kremlin Bic\u00eatre Hospital  Paris France"},{"name":"Paris Saclay University  Orsay France"},{"name":"Inserm Unit 1770 Institut Gustave Roussy  Villejuif France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ludivine David","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Hematology Diagnostic Lab AP\u2010HP, Kremlin Bic\u00eatre Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heloise","family":"Chosseler","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Saint Vincent de Paul Hospital, GHICL, Catholic University of Lille  Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Audrey","family":"Riquet","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Saint Vincent de Paul Hospital, GHICL, Catholic University of Lille  Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6453-6395","authenticated-orcid":false,"given":"Benedicte","family":"Bruno","sequence":"additional","affiliation":[{"name":"Hematology Pediatric Department CHU Lille  Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1526-7405","authenticated-orcid":false,"given":"Melissa","family":"Barbati","sequence":"additional","affiliation":[{"name":"Hematology Pediatric Department CHU Lille  Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,5,9]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.2019000947"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41375\u2010023\u201002082\u2010w"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S2352\u20103026(24)00063\u20102"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2017.10.017"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.10.027"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.3390\/children10111812"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62749"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.29558"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.07.020"},{"key":"e_1_2_9_11_1","unstructured":"Haute Autorit\u00e9 de Sant\u00e9 (HAS) \u201cAplasias M\u00e9dullaires Acquises et Constitutionnelles: Synth\u00e8se \u00e0 Destination Des M\u00e9decins Traitants \u201dHaute Autorit\u00e9 de Sant\u00e9;2023.https:\/\/www.has\u2010sante.fr\/upload\/docs\/application\/pdf\/2023\u201004\/pnds_aplasies\u2010_medullaires\u2010acquises_et_constitutionnelles_synthese\u2010medecins_traitants_20230301.pdf."},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jcp.44.9.742"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365\u20102141.2000.01796.x"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.70197"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/jmcb\/mjy087"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.2021011846"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.2022015881"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdrc.20129"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.188"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2017.12.019"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.224386.113"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2013.05.028"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms23031886"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.13866"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.12787"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1182\/bloodadvances.2019001210"}],"container-title":["Pediatric Blood &amp; Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/1545-5017.70363","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/1545-5017.70363","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/1545-5017.70363","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,3]],"date-time":"2026-07-03T20:58:02Z","timestamp":1783112282000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/1545-5017.70363"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,5,9]]},"references-count":25,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2026,7]]}},"alternative-id":["10.1002\/1545-5017.70363"],"URL":"https:\/\/doi.org\/10.1002\/1545-5017.70363","archive":["Portico"],"relation":{},"ISSN":["1545-5009","1545-5017"],"issn-type":[{"value":"1545-5009","type":"print"},{"value":"1545-5017","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,5,9]]},"assertion":[{"value":"2025-12-20","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-04-10","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-05-09","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70363"}}