Blau Syndrome and Early-Onset Sarcoidosis: A Six Case Series and Review of the Literature

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dc.contributor.authorKısaarslan, Ayşenur Paç
dc.contributor.authorSözeri, Betül
dc.contributor.authorŞahin, Nihal
dc.contributor.authorÇiçek, Sümeyra Özdemir
dc.contributor.authorGündüz, Zübeyde
dc.contributor.authorDemirkaya, Erkan
dc.contributor.authorÖzcan, Serdal Sadet
dc.date.accessioned2020-12-01T12:39:36Z
dc.date.available2020-12-01T12:39:36Z
dc.date.issued2020
dc.departmentEge Üniversitesien_US
dc.description.abstractObjectives: This study aims to discuss the clinical, laboratory and genetic findings, and treatment options for six patients who were diagnosed with Blau syndrome (BS)/early-onset sarcoidosis (EOS). Patients and methods: the study included four patients (2 males,2 females; mean age 7 years; range 4 to 10 years) with EOS and two siblings (1 male, 1 female; mean age 10 years; range, 9 to 11 years) with BS. Age, age of initial symptoms, age of diagnosis; articular involvement, presence of uveitis, dermatitis, or fever, other organ involvement, laboratory findings, results of metabolic tests for mucopolysaccharidosis and mucolipidosis, results of genetic, pathologic, and immunologic tests, radiologic findings to evaluate skeletal dysplasia, and treatment options were collected. Results: the median age at diagnosis of all patients was 6 years (range, 1 to 10 years). Five patients had camptodactyly and bilateral boggy synovitis in the wrists and ankles, one had granulomatous inflammatory changes in the liver and kidney biopsy, and one had attacks of fever and granulomatous dermatitis. None had uveitis. the detected mutations in nucleotide-binding oligomerization domain containing 2 (NOD2) were P268S (rs2066842), M513T (rs104895473), R702W (rs2066844), V955I (rs5743291), H343Y (rs199858111), and M491L (16:50745293). the treatments of patients included corticosteroids, non-steroid anti-inflammatory drugs, methotrexate, infliximab, adalimumab, anakinra, and canacinumab. Conclusion: Camptodactyly and boggy synovitis are important signs of BS/EOS. Methotrexate and tumor necrosis factor blockers are more effective in patients with predominantly articular symptoms. in patients 5 and 6 and their mother, we determined a novel M491L mutation in the NOD2 gene. Currently, this work is in progress towards identifying the pathogenesis and treatment options for this disease.en_US
dc.identifier.doi10.5606/ArchRheumatol.2020.7060
dc.identifier.endpage127en_US
dc.identifier.issn2148-5046
dc.identifier.issn2618-6500
dc.identifier.issue1en_US
dc.identifier.startpage117en_US
dc.identifier.urihttps://doi.org/10.5606/ArchRheumatol.2020.7060
dc.identifier.urihttps://app.trdizin.gov.tr//makale/TXpZeU16Y3dNQT09
dc.identifier.urihttps://hdl.handle.net/11454/67409
dc.identifier.volume35en_US
dc.identifier.wosWOS:000520407500015en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakTR-Dizinen_US
dc.language.isoenen_US
dc.relation.ispartofArchives of Rheumatologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subject0-Belirleneceken_US
dc.titleBlau Syndrome and Early-Onset Sarcoidosis: A Six Case Series and Review of the Literatureen_US
dc.typeArticleen_US

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