Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis.

@article{Onoufriadis2011MutationsII,
  title={Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis.},
  author={Alexandros Onoufriadis and Michael J. A. Simpson and Andrew E Pink and Paola Di Meglio and Catherine H Smith and Venu Pullabhatla and Jo Knight and Sarah L Spain and Frank O. Nestle and A D Burden and Francesca Capon and Richard C Trembath and Jonathan N. W. N. Barker},
  journal={American journal of human genetics},
  year={2011},
  volume={89 3},
  pages={432-7}
}
Generalized pustular psoriasis (GPP) is a rare and yet potentially lethal clinical variant of psoriasis, characterized by the formation of sterile cutaneous pustules, neutrophilia, fever and features of systemic inflammation. We sequenced the exomes of five unrelated individuals diagnosed with GPP. Nonsynonymous, splice-site, insertion, and deletion variants with an estimated population frequency of <0.01 were considered as candidate pathogenic mutations. A homozygous c.338C>T (p.Ser113Leu… CONTINUE READING
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