The autoinflammatory family of diseases share features of unprovoked, recurrent attacks of inflammation with fever, rash, body pain/arthritis, and organ inflammation. The family includes a handful of defined monogenic diseases, but more than 80% of cases do not have a known cause.
This project will establish a clinical home at BCCH for children with autoinflammatory disorders, and develop in parallel a robust, longitudinal collection of clinical data and biological samples for research. Laboratory initiatives will evaluate the clinical potential of previously identified, putative biomarkers of autoinflammation, and seek to uncover new disease etiologies.
The purpose of this registry is to develop a collection of information about autoinflammatory diseases in kids in order to better understand and better treat these diseases. Researches will be able to use the registry as a tool to help determine what sort of research questions are important to study. Children diagnosed with any type of autoinflammatory disease may be eligible for this study.
Periodic fever Syndromes: beyond the single gene paradigm
Detection of type I interferon in monogenic interferonopathies and beyond. Review.
Measles Lymphadenopathy in a Child With PFAPA Syndrome
The where, when, how and why of hyaluronan binding by immune cells
Increased intracellular oxygen radical production in neutrophils during febrileepisodes of PFAPA syndrome