Accurate clinical genetic testing for autoinflammatory diseases using the next-generation sequencing platform MiSeq.

ABSTRACT: Autoinflammatory diseases occupy one of a group of primary immunodeficiency diseases that are generally thought to be caused by mutation of genes responsible for innate immunity, rather than by acquired immunity. Mutations related to autoinflammatory diseases occur in 12 genes. For example, low-level somatic mosaic NLRP3 mutations underlie chronic infantile neurologic, cutaneous, articular syndrome (CINCA), also known as neonatal-onset multisystem inflammatory disease (NOMID). In current clinical practice, clinical genetic testing plays an important role in providing patients with quick, definite diagnoses. To increase the availability of such testing, low-cost high-throughput gene-analysis systems are required, ones that not only have the sensitivity to detect even low-level somatic mosai

SUBMITTER: Nakayama M 

PROVIDER: S-EPMC5614572 | biostudies-literature | 2017 Mar

REPOSITORIES: biostudies-literature