Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation

@article{Zhong2016GermlineNM,
  title={Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation},
  author={Franklin L. Zhong and Ons Mama{\"i} and Lorenzo Sborgi and Lobna Boussofara and Richard H Hopkins and Kim M Robinson and Ildik{\'o} Szever{\'e}nyi and Takuya Takeichi and Reshmaa Balaji and Aristotle Lau and Hazel Tye and Keya Roy and Carine Bonnard and Patricia Jennifer Ahl and Leigh Ann Jones and Paul J. Baker and Lukas Lacina and Atsushi Otsuka and Pierre R. Fournie and François Malecaze and E. Birgitte Lane and Masashi Akiyama and Kenji Kabashima and John Edward Connolly and Seth L Masters and Vincent Jos{\'e} Soler and Salma Samir Omar and J A McGrath and Roxana Ioana Nedelcu and Moez Gribaa and Mohamed Denguezli and Ali Kandil Saad and Sebastian Hiller and Bruno Reversade},
  journal={Cell},
  year={2016},
  volume={167},
  pages={187-202.e17}
}
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 sensor in human skin, and all pathogenic NLRP1 mutations are gain-of-function alleles… CONTINUE READING
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