Article
Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation.
Cell - 22 Sept 2016
Zhong Franklin L, Mamaï Ons, Sborgi Lorenzo, Boussofara Lobna, Hopkins Richard, Robinson Kim, Szeverényi Ildikó, Takeichi Takuya, Balaji Reshmaa, Lau Aristotle, Tye Hazel, Roy Keya, Bonnard Carine, Ahl Patricia J, Jones Leigh Ann, Baker Paul J, Lacina Lukas, Otsuka Atsushi, Fournie Pierre R, Malecaze François, Lane E Birgitte, Akiyama Masashi, Kabashima Kenji, Connolly John E, Masters Seth L, Soler Vincent J, Omar Salma Samir, McGrath John A, Nedelcu Roxana, Gribaa Moez, Denguezli Mohamed, Saad Ali, Hiller Sebastian, Reversade Bruno
Abstract excerpt
Inflammasome complexes function as key innate immune effectors that trigger inflammation in response to pathogen- and danger-associated signals. Here, we report that germline mutations in the inflammasome sensor NLRP1 cause two overlapping skin disorders: multiple self-healing palmoplantar carcinoma (MSPC) and familial keratosis lichenoides chronica (FKLC). We find that NLRP1 is the most prominent inflammasome...
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