Genetics and Pathophysiology of Autoinflammatory Disorders

Study ID Alternative Stable ID Type
phs001860 Parent-Offspring Trios

Study Description

In this study, patients with suspected disorders of inflammation and innate immune system dysregulation will undergo whole exome sequencing. This will involve both family studies (often trios or multiplex families including affected and unaffected individuals) and sporadic cases. The overall objective is to discover rare/novel high-penetrance mutations in genes that have not yet been implicated as the cause of monogenic autoinflammatory diseases. The aim also includes discovery of variants associated with inflammatory disease susceptibility.

Archive Link Archive Accession
dbGaP phs001860

Who archives the data?

There are no publications available