Prospective validation of the diagnostic score for molecular analysis of hereditary autoinflammatory syndromes in Italian children with periodic fever
نویسندگان
چکیده
Address: 1UO Pediatria II Istituto G. Gaslini and Dipartimento di Pediatria, University of Genoa, Genoa, Italy, 2Laboratorio di Genetica Molecolare, Istituto G. Gaslini, Genoa, Italy, 3Unità di Biostatistica, DISSAL, University of Genoa, Genoa, Italy, 4Dipartimento di Pediatria, Unità di Immunologia e Reumatologia Pediatrica, Spedali Civili e University of Brescia, Brescia, Italy, 5Dipartimento A.I. di Pediatria, University of Padua, Padova, Italy, 6UO Reumatologia Pediatrica, Ospedale Meyer, Firenze, Italy, 7Department of Pediatrics and Reproductive Medicine, University of Pisa, Pisa, Italy and 8Dipartmento di Genetica Umana, Ospedale Galliera, Genoa, Italy * Corresponding author
منابع مشابه
A validation of diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in Turkish children
Methods A total of 93 consecutive patients with a clinical history of periodic fever were screened for mutations in the MVK, TNFRSF1A, and MEFV genes, and detailed clinical information was collected prospectively. For autosomalrecessive diseases (MKD and FMF), only homozygous or compound heterozygous patients were accepted as genetically positive. The developed diagnostic score was validated in...
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OBJECTIVE To identify a set of clinical parameters that can predict the probability of carrying mutations in one of the genes associated with hereditary autoinflammatory syndromes. METHODS A total of 228 consecutive patients with a clinical history of periodic fever were screened for mutations in the MVK, TNFRSF1A, and MEFV genes, and detailed clinical information was collected. A diagnostic ...
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