Mutations in IL36RN/IL1F5 Are Associated with the Severe Episodic Inflammatory Skin Disease Known as Generalized Pustular Psoriasis

• Published in: American journal of human genetics Vol. 89; no. 3; pp. 432 - 437
• Main Authors: 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.
• Format: Journal Article
• Language: English
• Published: Cambridge, MA Elsevier Inc 09.09.2011; Cell Press; Elsevier
• Subjects: Biological and medical sciences; Bullous diseases of the skin; Child; Child, Preschool; Cytokines; Dermatology; Female; Fundamental and applied biological sciences. Psychology; General aspects. Genetic counseling; Genetic Predisposition to Disease - genetics; Genetics; Genetics of eukaryotes. Biological and molecular evolution; Humans; Immunity, Innate - genetics; Immunity, Innate - immunology; Interleukins - genetics; Interleukins - immunology; Interleukins - metabolism; Male; Medical genetics; Medical sciences; Middle Aged; Models, Molecular; Molecular and cellular biology; Mutation; Mutation, Missense - genetics; Pedigree; Psoriasis; Psoriasis - genetics; Psoriasis - immunology; Sequence Analysis, DNA; Signal transduction; Human; Skin disease; Pustular psoriasis; Critically ill; Pustulosis dermatosis; Genetics; Mutation; Generalized; Inflammatory disease

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....