OR7-002 – Pyrin 577 mutations in dominant autoinflammation
نویسندگان
چکیده
Results Whole exome sequencing revealed a novel missense sequence variant, not seen in around 6800 controls, mapping to exon 8 of the MEFV gene (c.1730C>A; p.T577N), co-segregating perfectly with disease in this family. Other mutations at the same amino acid (c.1730C>G; p.T577S; c.1729A>T; p.T577S) were found in a family of Turkish descent, with autosomal dominant inheritance of FMF-like phenotype, and a Dutch patient, respectively. Moreover, a mutation (c.1729A>G; p. T577A) was detected in 2 Dutch siblings, suffering from episodes of inflammation of varying severity not resembling FMF. PBMCs from one patient of the index family revealed increased basal IL-1b mRNA levels and cytokine responses after LPS stimulation. Responses normalized under colchicine treatment.
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عنوان ژورنال:
دوره 11 شماره
صفحات -
تاریخ انتشار 2013