Article
Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis.
American journal of human genetics - 9 Sept 2011
Onoufriadis Alexandros, Simpson Michael A, Pink Andrew E, Di Meglio Paola, Smith Catherine H, Pullabhatla Venu, Knight Jo, Spain Sarah L, Nestle Frank O, Burden A David, Capon Francesca, Trembath Richard C, Barker Jonathan N
Abstract excerpt
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...
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