{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,9]],"date-time":"2026-08-09T17:27:00Z","timestamp":1786296420723,"version":"build-2736575974"},"reference-count":35,"publisher":"MDPI AG","issue":"15","license":[{"start":{"date-parts":[[2024,8,1]],"date-time":"2024-08-01T00:00:00Z","timestamp":1722470400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Blau syndrome (BS) is a rare autoinflammatory granulomatosis characterized by granulomatous arthritis, uveitis, and dermatitis. Ocular complications are particularly severe in BS, significantly contributing to morbidity. This study aims to identify potential biomarkers for BS ocular degeneration through proteomic profiling of tear samples from affected patients. Seven subjects from the same family, including four carriers of the BS-associated NOD2 mutation (p.E383K), were recruited alongside healthy controls. Tear samples were collected using Schirmer strips and analyzed via mass spectrometry. A total of 387 proteins were identified, with significant differences in protein expression between BS patients, healthy familial subjects, and healthy controls. Key findings include the overexpression of alpha-2-macroglobulin (A2M) and immunoglobulin heavy constant gamma 4 (IGHG4) in BS patients. Bioinformatic analysis revealed that differentially expressed proteins are involved in acute-phase response, extracellular exosome formation, and protein binding. Notably, neutrophils\u2019 azurophilic granule components, as azurocidin (AZU1), myeloperoxidases (MPO), and defensins (DEFA3), were highly expressed in the most severely affected subject, suggesting a potential role of neutrophils in BS ocular severity. These proteins might be promising biomarkers for ocular involvement in BS, facilitating early detection and tailored treatment strategies.<\/jats:p>","DOI":"10.3390\/ijms25158387","type":"journal-article","created":{"date-parts":[[2024,8,1]],"date-time":"2024-08-01T12:38:20Z","timestamp":1722515900000},"page":"8387","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Proteomic Profiling of Tears in Blau Syndrome Patients in Identification of Potential Disease Biomarkers"],"prefix":"10.3390","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8228-2069","authenticated-orcid":false,"given":"Paola","family":"Galozzi","sequence":"first","affiliation":[{"name":"Laboratory Medicine Unit, Department of Medicine DIMED, University of Padova, Via Giustiniani 2, 35128 Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Bindoli","sequence":"additional","affiliation":[{"name":"Rheumatology Unit, Department of Medicine DIMED, University of Padova, Via Giustiniani 2, 35128 Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Baggio","sequence":"additional","affiliation":[{"name":"Rheumatology Unit, Department of Medicine DIMED, University of Padova, Via Giustiniani 2, 35128 Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-5561-6804","authenticated-orcid":false,"given":"Ilaria","family":"Battisti","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences, University of Padova, 35128 Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7246-8580","authenticated-orcid":false,"given":"Andrea","family":"Leonardi","sequence":"additional","affiliation":[{"name":"Ophthalmology Unit, Department of Neuroscience, University of Padova, 35128 Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8745-6171","authenticated-orcid":false,"given":"Daniela","family":"Basso","sequence":"additional","affiliation":[{"name":"Laboratory Medicine Unit, Department of Medicine DIMED, University of Padova, Via Giustiniani 2, 35128 Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4103-2733","authenticated-orcid":false,"given":"Giorgio","family":"Arrigoni","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences, University of Padova, 35128 Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6432-7174","authenticated-orcid":false,"given":"Paolo","family":"Sfriso","sequence":"additional","affiliation":[{"name":"Rheumatology Unit, Department of Medicine DIMED, University of Padova, Via Giustiniani 2, 35128 Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,8,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1016\/j.autrev.2012.07.028","article-title":"Blau Syndrome, Clinical and Genetic Aspects","volume":"12","author":"Sfriso","year":"2012","journal-title":"Autoimmun. 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