Targeted NGS based hereditary autoinflammatory disorder screening in routine diagnostics, two year experience in the Netherlands
نویسندگان
چکیده
Introduction Hereditary autoinflammatory diseases (AID) are characterized by recurrent bouts of systemic inflammation caused by dysregulation of the innate immunity system. The genotype-phenotype correlation can be highly variable which makes a genetic diagnosis in AID patients complex and laborious. A clear and definitive diagnosis cannot be provided for up to 80% of AID patients, which can be important for treatment options. To date, over 20 causal genes have been identified for monogenic AIDs.
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عنوان ژورنال:
دوره 13 شماره
صفحات -
تاریخ انتشار 2015