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We report features of ALPS due to CED (ALPS-CED) in 6 patients in previous literature and our patient with the homozygous hotspot mutation, c.793\u00a0C\u2009&gt;\u2009T in the CASP8 gene, and demonstrate that such mutation is a novel cause of CIDP.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Our patient fits the spectrum of genetic disorders causing ALPS with dysregulation of the mTOR pathway. Autoimmune lymphoproliferative syndrome with FAS mutations (ALPS-FAS) is also associated with hyperactivation of the mTOR pathway but hematologic symptoms are more severe than ALPS-CED. Both ALPS-FAS and ALPS-CED lead to autoimmunity and improve with use of mTOR inhibitors. ALPS-FAS is characterized by the elevation of alpha beta-double negative T-cells (DNT) and hypergammaglobulinemia, while such features are not prominent in ALPS-CED. Patients with ALPS-CED not only suffer from ALPS but also present with an immune deficiency and a chronic inflammatory state both related to non-apoptotic functions of caspase-8.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Both ALPS-FAS and ALPS-CED are characterized by deficient extrinsic apoptosis and dysregulation of the mTOR pathway. Compared to ALPS-FAS, the phenotype of ALPS-CED is more complex due to a more diffuse dysfunction of the non-apoptotic pathways. To our knowledge, early onset CIDP in a patient with homozygous hotspot mutation, c.793\u00a0C\u2009&gt;\u2009T in CASP8, has not been reported previously.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1007\/s10875-025-01931-w","type":"journal-article","created":{"date-parts":[[2025,9,30]],"date-time":"2025-09-30T07:49:51Z","timestamp":1759218591000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Novel Cause of CIDP: Homozygous Hotspot Mutation, c.793\u00a0C\u2009&gt;\u2009T in CASP8 Gene"],"prefix":"10.1007","volume":"45","author":[{"given":"Kamal","family":"Sharma","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana","family":"Flores","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paul","family":"Maertens","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,9,30]]},"reference":[{"key":"1931_CR1","doi-asserted-by":"crossref","unstructured":"Ouvrier R. 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