{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T01:04:12Z","timestamp":1789434252660,"version":"build-2803163510"},"reference-count":5,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,6,27]],"date-time":"2026-06-27T00:00:00Z","timestamp":1782518400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T00:00:00Z","timestamp":1789430400000},"content-version":"vor","delay-in-days":80,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"\u201cVictor Babe\u0219\u201d University of Medicine and Pharmacy of Timisoara, Romania."}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Clin Immunol"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>TRNT1 deficiency (SIFD syndrome) is a rare inborn error of immunity characterized by sideroblastic anemia, immunodeficiency, periodic fevers, and developmental delay. We report two Romanian patients with genetically confirmed TRNT1 deficiency presenting with characteristic hematologic and immunologic abnormalities and a distinctive facial dysmorphism. One patient additionally developed severe gastrointestinal ischemia and intracranial hemorrhage in the setting of concomitant hereditary antithrombin III deficiency. These observations expand the phenotypic spectrum associated with TRNT1 deficiency and highlight the marked clinical variability of this disorder. The contribution of TRNT1-associated inflammation to the vascular phenotype remains speculative and cannot be distinguished from the effects of the concomitant thrombophilic condition.<\/jats:p>","DOI":"10.1007\/s10875-026-02047-5","type":"journal-article","created":{"date-parts":[[2026,6,29]],"date-time":"2026-06-29T05:56:04Z","timestamp":1782712564000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Facial Dysmorphism and Severe Vascular Phenotype in TRNT1 Deficiency with Concomitant Antithrombin III Deficiency"],"prefix":"10.1007","volume":"46","author":[{"given":"David M.","family":"Matea","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Smaranda T.","family":"Arghirescu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adela","family":"Chirita-Emandi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia","family":"Urtila","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mihaela","family":"Bataneant","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,6,27]]},"reference":[{"key":"2047_CR1","doi-asserted-by":"publisher","first-page":"112","DOI":"10.1182\/blood-2012-08-439083","volume":"122","author":"DH Wiseman","year":"2013","unstructured":"Wiseman DH, May A, Jolles S, et al. A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD). Blood. 2013;122:112\u201323.","journal-title":"Blood"},{"key":"2047_CR2","doi-asserted-by":"publisher","first-page":"2867","DOI":"10.1182\/blood-2014-08-591370","volume":"124","author":"PK Chakraborty","year":"2014","unstructured":"Chakraborty PK, Schmitz-Abe K, Kennedy EK, et al. Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD). Blood. 2014;124:2867\u201371.","journal-title":"Blood"},{"key":"2047_CR3","doi-asserted-by":"publisher","first-page":"18830","DOI":"10.1038\/s41598-025-03492-9","volume":"15","author":"CL Pantea","year":"2025","unstructured":"Pantea CL, Bataneant M, Zimbru CG, et al. Genetic landscape of Romanian children with inborn errors of immunity via gene panels, exome, and genome sequencing. Sci Rep. 2025;15:18830.","journal-title":"Sci Rep"},{"key":"2047_CR4","doi-asserted-by":"publisher","first-page":"612","DOI":"10.1136\/annrheumdis-2017-212401","volume":"77","author":"A Giannelou","year":"2018","unstructured":"Giannelou A, Wang H, Zhou Q, et al. Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors. Ann Rheum Dis. 2018;77:612\u20139.","journal-title":"Ann Rheum Dis"},{"key":"2047_CR5","doi-asserted-by":"publisher","first-page":"34","DOI":"10.1007\/s10875-026-02000-6","volume":"46","author":"TH Su","year":"2026","unstructured":"Su TH, Lee NC, Wang LC, et al. Prognostic factors for sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay due to TRNT1 gene mutations: a case report and systematic review. J Clin Immunol. 2026;46:34.","journal-title":"J Clin Immunol"}],"container-title":["Journal of Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10875-026-02047-5","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10875-026-02047-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10875-026-02047-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T00:57:55Z","timestamp":1789433875000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10875-026-02047-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6,27]]},"references-count":5,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,12]]}},"alternative-id":["2047"],"URL":"https:\/\/doi.org\/10.1007\/s10875-026-02047-5","relation":{},"ISSN":["1573-2592"],"issn-type":[{"value":"1573-2592","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,6,27]]},"assertion":[{"value":"10 May 2026","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"22 June 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"27 June 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"This study was conducted in accordance with the principles of the Declaration of Helsinki. Approval was granted by the Ethics Committee of the Emergency Clinical Hospital for Children \u201cLouis \u021aurcanu\u201d, Timi\u0219oara, Romania (No. 5815\/02.04.2026).","order":1,"name":"Ethics","label":"Ethics approval","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Written informed consent was obtained from the patients\u2019 legal guardians for publication of clinical data and images.","order":2,"name":"Ethics","label":"Informed consent","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","label":"Competing interests","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Not applicable.","order":4,"name":"Ethics","label":"Clinical trial number","group":{"name":"EthicsHeading","label":"Declarations"}}],"article-number":"89"}}