Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes.

@article{Nakagawa2015SomaticNM,
  title={Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes.},
  author={Kenji Nakagawa and Eva Gonz{\'a}lez-Roca and Alejandro Souto and Toshinao Kawai and Hiroaki Umebayashi and Josep Mar{\'i}a Campistol and Jer{\'o}nima Ca{\~n}ellas and Syuji Takei and Norimoto Kobayashi and Jos{\'e} Lu{\'i}s Callejas-Rubio and Norb{\'e}rto Ortego-Centeno and Est{\'i}baliz Ru{\'i}z-Ortiz and Fina Rius and Jordi Ant{\'o}n and Est{\'i}baliz Iglesias and Santiago Jim{\'e}nez-Trevi{\~n}o and Carmen Vargas and Juli{\'a}n Fern{\'a}ndez-Martin and Inmaculada Calvo and Jos{\'e} Hern{\'a}ndez-Rodr{\'i}guez and Mar{\'i}a G. M{\'e}ndez and Mar{\'i}a Teresa Dordal and Mar{\'i}a Basaga{\~n}a and Segundo Buj{\'a}n and Masato Yashiro and T Kubota and Ryuji Koike and Naoko Akuta and Kumiko Shimoyama and Naomi Iwata and Megumu K Saito and Osamu Ohara and Naotomo Kambe and Takahiro Yasumi and Kazushi Izawa and Tomoki Kawai and Toshio Heike and Jordi Yag{\"u}e and Ryuta Nishikomori and Juan I Ar{\'o}stegui},
  journal={Annals of the rheumatic diseases},
  year={2015},
  volume={74 3},
  pages={603-10}
}
UNLABELLED : 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 and included in the cryopyrin-associated periodic syndromes (CAPS). A variable degree of somatic NLRP3 mosaicism has been detected in ≈35% of patients with CINCA. However, no data are currently available regarding the relevance of this… CONTINUE READING
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