Discovering genetic variants of monogenic systemic inflammatory disease

Summary

Rare, monogenic forms of systemic inflammatory rheumatic disease are increasingly recognized among patients diagnosed with systemic lupus erythematosus (SLE), autoinflammatory diseases (AIDs), systemic juvenile idiopathic arthritis (sJIA) and vasculitis. These conditions often result from abnormalities within the innate and adaptive immune systems, with a large spectrum of clinical manifestations. Autoinflammatory diseases represent a group of monogenic disorders of which the fever syndromes including familial Mediterranean fever (FMF), tumour necrosis factor-receptor associated periodic syndrome (TRAPS), mevalonate kinase deficiency /hyper-immunoglobulin D syndrome (HIDS), and the cryopyrin associated periodic syndromes (CAPS) are the best-recognized. More recently vasculitis has also been recognized as a component of some monogenic autoinflammatory diseases. Without an accurate diagnosis, affected individuals may not be offered life-changing treatment. Furthermore, an early diagnosis is crucial to enable treatment initiation before irreversible organ damage occurs.