Monogenic causes of inflammatory disease in rheumatology. Curr Opin Rheumatol 2012 Sep;24(5):506-14
Date
07/27/2012Pubmed ID
22832824DOI
10.1097/BOR.0b013e32835689b9Scopus ID
2-s2.0-84864876528 (requires institutional sign-in at Scopus site) 3 CitationsAbstract
PURPOSE OF REVIEW: To review the single-gene defects that can mimic rheumatologic diseases.
RECENT FINDINGS: 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.
SUMMARY: 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.
Author List
Verbsky JWAuthor
James Verbsky MD, PhD Professor in the Pediatrics department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
Acne VulgarisArthritis
Arthritis, Infectious
Bone Diseases
Cranial Nerve Diseases
Familial Mediterranean Fever
Fever
Humans
Inflammation
Pyoderma Gangrenosum
Rheumatic Diseases
Rheumatology
Sarcoidosis
Skin Diseases, Genetic
Syndrome
Synovitis
Uveitis