{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T04:26:37Z","timestamp":1787199997510,"version":"build-2736575974"},"reference-count":67,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:00:00Z","timestamp":1787011200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002426","name":"Telethon grant","doi-asserted-by":"publisher","award":["GMR22T1086"],"award-info":[{"award-number":["GMR22T1086"]}],"id":[{"id":"10.13039\/501100002426","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"ISCIII","doi-asserted-by":"publisher","award":["PI23\/00624"],"award-info":[{"award-number":["PI23\/00624"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000780","name":"European Union","doi-asserted-by":"crossref","award":["23054\/GERM\/25"],"award-info":[{"award-number":["23054\/GERM\/25"]}],"id":[{"id":"10.13039\/501100000780","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100000780","name":"European Union","doi-asserted-by":"crossref","award":["21920\/PI\/22"],"award-info":[{"award-number":["21920\/PI\/22"]}],"id":[{"id":"10.13039\/501100000780","id-type":"DOI","asserted-by":"crossref"}]},{"award":["23054\/GERM\/25"],"award-info":[{"award-number":["23054\/GERM\/25"]}],"id":[{"id":"https:\/\/ror.org\/019w4f821","id-type":"ROR","asserted-by":"publisher"}]},{"award":["21920\/PI\/22"],"award-info":[{"award-number":["21920\/PI\/22"]}],"id":[{"id":"https:\/\/ror.org\/019w4f821","id-type":"ROR","asserted-by":"publisher"}]},{"DOI":"10.13039\/100031670","name":"SETH","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100031670","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Biomolecules"],"abstract":"<jats:p>GPIV (CD36) is a multifunctional membrane protein expressed on various cells, including platelets, where it plays a role in adhesion and activation through the interaction with its ligands, including collagen types I and III and thrombospondin 1. Inherited GPIV deficiency, historically recognized in anti-Naka alloimmunized East Asian donors, is considered asymptomatic and associated with normal platelet aggregation, although impaired adhesion under high-flow conditions has been reported. Here, we reconsider the molecular basis, epidemiology and functional consequences of GPIV deficiency and report four unrelated patients in whom heterozygous CD36 variants are associated with markedly reduced platelet GPIV expression and a clinically relevant mucocutaneous bleeding diathesis. Patients suffered lifelong bleeding symptoms despite normal light-transmission aggregometry and platelet granule content and release and displayed decreased GPIV expression. Three of them showed slightly decreased VWF. Platelet adhesion to Type I collagen was reduced at high shear. These cases suggest for the first time an association between CD36 gene variants and bleeding and underscore the importance of including GPIV in the diagnostic workup of inherited platelet disorders, particularly when conventional assays do not reveal abnormalities.<\/jats:p>","DOI":"10.3390\/biom16081205","type":"journal-article","created":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T08:08:41Z","timestamp":1787040521000},"page":"1205","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Inherited Platelet GPIV Deficiency: First Description of a Series of Unrelated Patients with Bleeding Diathesis"],"prefix":"10.3390","volume":"16","author":[{"given":"Loredana","family":"Bury","sequence":"first","affiliation":[{"name":"Section of Internal and Cardiovascular Medicine, Hemostasis and Thrombosis Center, Department of Medicine and Surgery, University of Perugia, 06132 Perugia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7896-7815","authenticated-orcid":false,"given":"Silvia","family":"Sorrentino","sequence":"additional","affiliation":[{"name":"Dipartimento di Scienze di Laboratorio ed Ematologiche, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6078-3041","authenticated-orcid":false,"given":"Emanuela","family":"Falcinelli","sequence":"additional","affiliation":[{"name":"Section of Internal and Cardiovascular Medicine, Hemostasis and Thrombosis Center, Department of Medicine and Surgery, University of Perugia, 06132 Perugia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8966-7367","authenticated-orcid":false,"given":"Giuseppe","family":"Guglielmini","sequence":"additional","affiliation":[{"name":"Section of Internal and Cardiovascular Medicine, Hemostasis and Thrombosis Center, Department of Medicine and Surgery, University of Perugia, 06132 Perugia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonietta","family":"Ferretti","sequence":"additional","affiliation":[{"name":"Dipartimento di Scienze di Laboratorio ed Ematologiche, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0523-5744","authenticated-orcid":false,"given":"Paola","family":"Concolino","sequence":"additional","affiliation":[{"name":"Departmental Unit of Molecular and Genomic Diagnostics, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy"},{"name":"Genomics Core Facility, G-STeP, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4656-4771","authenticated-orcid":false,"given":"Ana","family":"S\u00e1nchez-Fuentes","sequence":"additional","affiliation":[{"name":"Servicio de Hematolog\u00eda, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonaci\u00f3n, Universidad de Murcia, IMIB-Pascual Parrilla, CIBERER-ISCIII, 30001 Murcia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4225-6840","authenticated-orcid":false,"given":"Jos\u00e9","family":"Rivera","sequence":"additional","affiliation":[{"name":"Servicio de Hematolog\u00eda, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonaci\u00f3n, Universidad de Murcia, IMIB-Pascual Parrilla, CIBERER-ISCIII, 30001 Murcia, Spain"},{"name":"Grupo Espa\u00f1ol de Alteraciones Plaquetarias Cong\u00e9nitas (GEAPC)-SETH, 28001 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Gresele","sequence":"additional","affiliation":[{"name":"Section of Internal and Cardiovascular Medicine, Hemostasis and Thrombosis Center, Department of Medicine and Surgery, University of Perugia, 06132 Perugia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0942-2819","authenticated-orcid":false,"given":"Erica","family":"De Candia","sequence":"additional","affiliation":[{"name":"Dipartimento di Scienze di Laboratorio ed Ematologiche, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy"},{"name":"Dipartimento di Medicina e Chirurgia Traslazionale, Facolt\u00e0 di Medicina, Universit\u00e0 Cattolica del Sacro Cuore, 00168 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,8,18]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1055\/s-0043-1768935","article-title":"The Role of CD36\/GPIV in Platelet Biology","volume":"50","author":"Bendas","year":"2024","journal-title":"Semin. 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