Conflict of interest: none declared.
Clinical dermatology ● Concise report
Muckle–Wells syndrome without mutation in exon 3 of the NLRP3 gene, identified by evidence of excessive monocyte production of functional interleukin 1β and rapid response to anakinra
Version of Record online: 25 JUL 2013
© 2013 British Association of Dermatologists
Clinical and Experimental Dermatology
Volume 38, Issue 8, pages 874–877, December 2013
How to Cite
Sabroe, R. A., Stokes, C. A., Parker, L. C., Higgins, K., Prince, L. R. and Sabroe, I. (2013), Muckle–Wells syndrome without mutation in exon 3 of the NLRP3 gene, identified by evidence of excessive monocyte production of functional interleukin 1β and rapid response to anakinra. Clinical and Experimental Dermatology, 38: 874–877. doi: 10.1111/ced.12186
- Issue online: 20 NOV 2013
- Version of Record online: 25 JUL 2013
- Manuscript Accepted: 10 MAR 2013
We report a man with lifelong urticaria, night sweats, arthralgia and lethargy. He had high levels of inflammatory markers and serum amyloid A, but no identifiable mutation in exon 3 of the NLRP3 (NOD-like receptor family, pyrin domain-1 containing 3) gene, and no relevant family history. We found marked production of functional interleukin (IL)-1 by the patient's monocytes at baseline and after stimulation with lipopolysaccharide. The patient made an immediate response to treatment with an IL-1β receptor antagonist. We propose that this patient has Muckle–Wells syndrome without deafness, occurring de novo. Functional screening for IL-1 production could aid diagnosis in future similar cases.