Abstract
To review the single-gene defects that can mimic rheumatologic diseases. Monogenic disorders can cause a variety of diseases that may be seen by a rheumatologist. Many of these illnesses present with recurrent episodes of arthritis, rash, fever and inflammation, and serositis. Recent discoveries have defined inflammatory diseases due to mutations in the IL-1 and IL-36 receptor antagonists, as well as the immunoproteosome. Further study of well defined monogenic causes of inflammatory diseases, such as FMF, PAPA, TRAPS, and HIDS, has elucidated the pathophysiology of these diseases leading to targeted immunotherapy with anticytokine biological medications. A rheumatologist should be aware of the genetic causes of inflammatory disease mimics. This will not only help with the prognosis of these diseases, but also help to guide therapy to prevent long-term complications associated with these disorders.
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