{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T14:49:12Z","timestamp":1792162152809,"version":"4.4.0"},"reference-count":24,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T00:00:00Z","timestamp":1792108800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T00:00:00Z","timestamp":1792108800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Mol Biol Rep"],"published-print":{"date-parts":[[2026,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Autoimmune lymphoproliferative syndrome (ALPS) is an immune dysregulation disorder caused by defective lymphocyte apoptosis, most commonly involving the FAS\u2013FAS ligand pathway. Because ALPS frequently presents with autoimmune cytopenias, particularly immune thrombocytopenia (ITP), its diagnosis may be challenging. This study evaluated whether FAS and FAS ligand gene expression could distinguish ALPS from ITP.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      FAS and FAS ligand messenger RNA expression was measured by quantitative real-time polymerase chain reaction in whole-blood samples from patients with pediatric-onset ALPS (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u200924), patients with chronic ITP (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u200927), and healthy controls (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u200922). Expression levels were compared among groups, and their diagnostic performance was assessed using receiver operating characteristic curve analysis.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      FAS expression was significantly higher in patients with ALPS than in healthy controls (\n                      <jats:italic>p<\/jats:italic>\n                      \u2009&lt;\u20090.01), but no significant difference was observed between ALPS and ITP. FAS expression showed moderate discrimination between ALPS and healthy controls but poor discrimination between ALPS and ITP. FAS ligand expression did not differ significantly among groups and showed no meaningful diagnostic performance. Neither FAS nor FAS ligand expression correlated with double-negative T-cell percentages or differed according to treatment status in patients with ALPS.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>FAS and FAS ligand transcriptional levels do not provide disease-specific discrimination between ALPS and ITP. These findings support the continued use of clinical, immunophenotypic, functional, and genetic investigations for the diagnosis of ALPS.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1007\/s11033-026-12950-0","type":"journal-article","created":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T14:20:44Z","timestamp":1792160444000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["FAS and FASL expression in autoimmune lymphoproliferative syndrome and immune thrombocytopenia: limited diagnostic utility as transcriptional biomarkers"],"prefix":"10.1007","volume":"53","author":[{"given":"Paola","family":"Montanari","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federico","family":"Rondot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Pau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Clemente","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Calvi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1273-3178","authenticated-orcid":false,"given":"Ilaria","family":"Galliano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano","family":"Gambarino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Massimiliano","family":"Bergallo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,10,16]]},"reference":[{"key":"12950_CR1","doi-asserted-by":"publisher","first-page":"e35","DOI":"10.1182\/blood-2010-04-280347","volume":"116","author":"JB Oliveira","year":"2010","unstructured":"Oliveira JB, Bleesing JJH, Dianzani U, Fleisher TA, Jaffe ES, Lenardo MJ et al (2010) Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome: report from the 2009 NIH International Workshop. 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The study protocol received approval from the ethics committee of Azienda Ospedaliera Universitaria Citt\u00e0 della Salute e della Scienza, Turin (approval code 00313 23\/07\/2020).","order":1,"name":"Ethics","label":"Institutional Review Board Statement","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Written informed consent was obtained from adult participants or from the parents or legal guardians of participants younger than 18 years. Analyses were conducted using residual laboratory samples, and all data were collected in an anonymized form.","order":2,"name":"Ethics","label":"Informed Consent Statement","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no conflict of interest.","order":3,"name":"Ethics","label":"Conflict of interest","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no competing interests","order":4,"name":"Ethics","label":"Competing interests","group":{"name":"EthicsHeading","label":"Declarations"}}],"article-number":"1730"}}