Article
A rare loss-of-function genetic mutation suggest a role of dermcidin deficiency in hidradenitis suppurativa pathogenesis.
Frontiers in immunology - 1 Jan 2022
Tricarico Paola Maura, Gratton Rossella, Dos Santos-Silva Carlos André, de Moura Ronald Rodrigues, Ura Blendi, Sommella Eduardo, Campiglia Pietro, Del Vecchio Cecilia, Moltrasio Chiara, Berti Irene, D'Adamo Adamo Pio, Elsherbini Ahmed M A, Staudenmaier Lena, Chersi Karin, Boniotto Michele, Krismer Bernhard, Schittek Birgit, Crovella Sergio
Abstract excerpt
Hidradenitis suppurativa (HS) is a chronic inflammatory skin disease with a multifactorial aetiology that involves a strict interplay between genetic factors, immune dysregulation and lifestyle. Familial forms represent around 40% of total HS cases and show an autosomal dominant mode of inheritance of the disease. In this study, we conducted a whole-exome sequence analysis on an Italian family of 4 members...
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