{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T02:16:13Z","timestamp":1778811373220,"version":"3.51.4"},"reference-count":35,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,4,16]],"date-time":"2024-04-16T00:00:00Z","timestamp":1713225600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2024,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Fabry disease (FD) is an X\u2010linked disease characterized by an accumulation of glycosphingolipids, notably of globotriaosylceramide (Gb3) and globotriaosylsphingosine (lysoGb3) leading to renal failure, cardiomyopathy, and cerebral strokes. Inflammatory processes are involved in the pathophysiology. We investigated the immunological phenotype of peripheral blood mononuclear cells in Fabry patients depending on the clinical phenotype, treatment, Gb3, and lysoGb3 levels and the presence of anti\u2010drug antibodies (ADA). Leucocytes from 41 male patients and 20 controls were analyzed with mass cytometry using both unsupervised and supervised algorithms. FD patients had an increased expression of CD27 and CD28 in memory CD45\u2010 and CD45\u2009+\u2009CCR7\u2010CD4 T cells (respectively <jats:italic>p<\/jats:italic>\u2009&lt;\u20090.014 and <jats:italic>p<\/jats:italic>\u2009&lt;\u20090.02). Percentage of CD45RA\u2010CCR7\u2010CD27\u2009+\u2009CD28+ cells in CD4 T cells was correlated with plasma lysoGb3 (<jats:italic>r<\/jats:italic>\u2009=\u20090.60; <jats:italic>p<\/jats:italic>\u2009=\u20090.0036) and phenotype (<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.003). The correlation between Gb3 and CD27 in CD4 T cells almost reached significance (<jats:italic>r<\/jats:italic>\u2009=\u20090.33; <jats:italic>p<\/jats:italic>\u2009=\u20090.058). There was no immune profile associated with the presence of ADA. Treatment with agalsidase beta was associated with an increased proportion of Natural Killer cells. These findings provide valuable insights for understanding FD, linking Gb3 accumulation to inflammation, and proposing new prognostic biomarkers.<\/jats:p>","DOI":"10.1002\/jimd.12727","type":"journal-article","created":{"date-parts":[[2024,4,16]],"date-time":"2024-04-16T07:57:21Z","timestamp":1713254241000},"page":"818-833","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Mass cytometry reveals atypical immune profile notably impaired maturation of memory <scp>CD4<\/scp> T with Gb3\u2010related <scp>CD27<\/scp> expression in <scp>CD4<\/scp> T cells in Fabry disease"],"prefix":"10.1002","volume":"47","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4463-9757","authenticated-orcid":false,"given":"Wladimir","family":"Mauhin","sequence":"first","affiliation":[{"name":"Internal Medicine Department, Reference Center for Lysosomal Diseases Groupe Hospitalier Diaconesses\u2014Croix Saint Simon  Paris 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