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The genetic landscape of ALPS includes mutations in <jats:italic>FAS<\/jats:italic>, <jats:italic>FASLG<\/jats:italic>, and <jats:italic>FADD<\/jats:italic>, all associated with apoptosis deficiency, while the role of CASP10 defect in the disease remains debated. In this study, we aimed to assess the impact of <jats:italic>CASP10<\/jats:italic> variants on ALPS pathogenesis. We benefit from thousands of genetic analysis datasets performed in our Institute\u2019s genetic platform to identify individuals carrying <jats:italic>CASP10<\/jats:italic> variants previously suspected to be involved in ALPS outcome: p.C401LfsX15, p.V410I and p.Y446C, both at heterozygous and homozygous state. Clinical and laboratory features of the six included subjects were variable but not consistent with ALPS. Two individuals were healthy. Comprehensive analyses of CASP10 protein expression and FAS-mediated apoptosis were conducted and compared to healthy controls and ALPS patients with <jats:italic>FAS<\/jats:italic> mutations. Missense <jats:italic>CASP10<\/jats:italic> variants (p.V410I and p.Y446C), which are common in the general population, did not disrupt CASP10 expression, nor FAS-mediated apoptosis. In contrast, homozygous p.C401LfsX15 <jats:italic>CASP10<\/jats:italic> variant lead to a complete abolished CASP10 expression but had no impact on FAS-mediated apoptosis function. At heterozygous state, this p.C401LfsX15 variant lead to a reduced CASP10 protein levels but remained associated with a normal FAS-mediated apoptosis function. These findings demonstrate that CASPASE 10 is dispensable for FAS-mediated apoptosis. In consequences, <jats:italic>CASP10<\/jats:italic> defect unlikely contribute to ALPS pathogenesis, since they did not result in an impairment of FAS-mediated apoptosis nor in clinical features of ALPS in human. Moreover, the absence of FAS expression up-regulation in subjects with <jats:italic>CASP10<\/jats:italic> variants rule out any compensatory mechanisms possibly involved in the normal apoptosis function observed. In conclusion, this study challenges the notion that <jats:italic>CASP10<\/jats:italic> variants contribute to the development of ALPS.<\/jats:p>","DOI":"10.1038\/s41419-024-06679-6","type":"journal-article","created":{"date-parts":[[2024,5,4]],"date-time":"2024-05-04T12:01:53Z","timestamp":1714824113000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Study of the potential role of CASPASE-10 mutations in the development of autoimmune lymphoproliferative syndrome"],"prefix":"10.1038","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6879-8982","authenticated-orcid":false,"given":"Filippo","family":"Consonni","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Solange","family":"Moreno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Blanca","family":"Vinuales Colell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Claude","family":"Stolzenberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-8846-0031","authenticated-orcid":false,"given":"Alicia","family":"Fernandes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00e9lanie","family":"Parisot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9cile","family":"Masson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Neveux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00e9r\u00e9mie","family":"Rosain","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Bamberger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Gabrielle","family":"Vigue","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marion","family":"Malphettes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Quartier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Capucine","family":"Picard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7858-7866","authenticated-orcid":false,"given":"Fr\u00e9d\u00e9ric","family":"Rieux-Laucat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7365-699X","authenticated-orcid":false,"given":"Aude","family":"Magerus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,5,4]]},"reference":[{"key":"6679_CR1","doi-asserted-by":"publisher","first-page":"558","DOI":"10.1007\/s10875-018-0523-x","volume":"38","author":"F Rieux-Laucat","year":"2018","unstructured":"Rieux-Laucat F, Mag\u00e9rus-Chatinet A, Neven B. 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This study was performed in accordance with the 1975 Declaration of Helsinki and received the agreement of the Ile de France ethic committee (CPP IDF2 DC-2014-22722015-03-03 AF) and the samples collection has been declared to the French ministry of research with the reference DC 2014-2272.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}}],"article-number":"315"}}