<p>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.</p>

Genetics and Pathophysiology of Autoinflammatory Disorders

Hereditary Autoinflammatory Diseases study with WXS data on dbGaP (206 participants)

Genetics and Pathophysiology of Autoinflammatory Disorders

Description

Applying For Access

Summary