Somatic NLRP3 mosaicism in Muckle-Wells syndrome

E Gonzalez-Roca,J Rius,K Nakagawa,S Plaza,A Mensa-Vilaro,Jm Campistol,E Ruiz-Ortiz,R Nishikomori,A Souto,J Yagüe,J Cañellas,Ji Arostegui,Mc Anton

doi:10.1186/1546-0096-13-s1-p61

Abstract

Familial cold autoinflammatory syndrome, Muckle-Wells syndrome (MWS), and chronic, infantile, neurological, cutaneous and articular (CINCA) syndrome are dominantly inherited autoinflammatory diseases associated to gain-of-function NLRP3 mutations. All these diseases are currently considered as different phenotypes of the cryopyrin-associated periodic syndromes (CAPS). A variable degree of somatic NLRP3 mosaicism has been recently detected in ≈35% of patients with CINCA. However, no data are currently available regarding the relevance of this genetic mechanism in other CAPS phenotypes.

Highlights

Familial cold autoinflammatory syndrome, Muckle-Wells syndrome (MWS), and chronic, infantile, neurological, cutaneous and articular (CINCA) syndrome are dominantly inherited autoinflammatory diseases associated to gain-of-function NLRP3 mutations
All these diseases are currently considered as different phenotypes of the cryopyrin-associated periodic syndromes (CAPS)
A variable degree of somatic NLRP3 mosaicism has been recently detected in ≈35% of patients with CINCA

Summary

Introduction

Muckle-Wells syndrome (MWS), and chronic, infantile, neurological, cutaneous and articular (CINCA) syndrome are dominantly inherited autoinflammatory diseases associated to gain-of-function NLRP3 mutations. All these diseases are currently considered as different phenotypes of the cryopyrin-associated periodic syndromes (CAPS). A variable degree of somatic NLRP3 mosaicism has been recently detected in ≈35% of patients with CINCA. No data are currently available regarding the relevance of this genetic mechanism in other CAPS phenotypes

Materials and methods

Conclusion

Results