in the clinical suspicion of systemic autoinflammatory diseases: a

Autor: Karacan, I, Balamir, A, Ugurlu, S, Aydin, AK, Everest, E, Zor, S, Onen, MO, Dasdemir, S, Ozkaya, O, Sozeri, B, Tufan, A, Yildirim, DG, Yuksel, S, Ayaz, NA, Omeroglu, RE, Ozturk, K, Cakan, M, Soylemezoglu, O, Sahin, S, Barut, K, Adrovic, A, Seyahi, E, Ozdogan, H, Kasapcopur, O, Turanli, ET

Systemic autoinflammatory diseases (sAIDs) are a heterogeneous group of disorders, having monogenic inherited forms with overlapping clinical manifestations. More than half of patients do not carry any pathogenic variant in formerly associated diseas

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::3661d2a4ce4b01a229bbf7575b7458d5

A rare case of uncharacterized autoinflammatory disease: Patient carrying variations in NLRP3 and TNFRSF1A genes.

Autor: Kilinc OC; Division of Rheumatology, Department of Internal Medicine, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey., Gayibova K; Division of Rheumatology, Department of Internal Medicine, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey., Onen MO; Faculty of Science and Letters, Department of Molecular Biology and Genetics, Istanbul Technical University, Istanbul, Turkey., Onat UI; Graduate School of Natural and Applied Sciences, Acibadem University, Istanbul, Turkey.; Faculty of Engineering and Natural Sciences, Department of Molecular Biology and Genetics, Acibadem University, Istanbul, Turkey., Bülbül A; Graduate School of Health Sciences, Bioinformatics and Biostatistics Department, Acibadem University, Istanbul, Turkey., Timucin AC; Graduate School of Natural and Applied Sciences, Acibadem University, Istanbul, Turkey.; Faculty of Engineering and Natural Sciences, Department of Molecular Biology and Genetics, Acibadem University, Istanbul, Turkey., Ugurlu S; Division of Rheumatology, Department of Internal Medicine, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey., Turanli ET; Graduate School of Natural and Applied Sciences, Acibadem University, Istanbul, Turkey.; Faculty of Engineering and Natural Sciences, Department of Molecular Biology and Genetics, Acibadem University, Istanbul, Turkey.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Oct; Vol. 194 (10), pp. e63715. Date of Electronic Publication: 2024 May 20.