Publications by authors named "M Boniotto"
Sporadic Hidradenitis Suppurativa (spHS) is a multifactorial disease in which genetic predisposition is intertwined with environmental factors. Due to the still to date limited knowledge of spHS genetics, we calculated Polygenic scores (PGS) to study the genetic underpinnings that contribute to spHS within European demographic. 256 spHS patients and 1686 healthy controls were analyzed across 6 European clinical centers.
View Article and Find Full Text PDFBackground/aims: Aquaporin-3 (AQP3) is an aquaglyceroporin and peroxiporin that plays a crucial role in skin barrier homeostasis. Dysregulated AQP3 expression has been observed in different inflammatory skin conditions. Hidradenitis Suppurativa (HS) is an autoinflammatory keratinization disease that typically appears between 10 and 21 years of age, characterized by alteration of skin barrier homeostasis.
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- Dowling Degos disease (DDD) is a rare genetic skin condition that causes progressive pigmented lesions, mainly in skin folds, linked to mutations in several genes, including KRT5, POGLUT-1, and POFUT-1, as well as PSENEN and potentially NCSTN.
- A study involving a family with DDD and hidradenitis suppurativa (HS) identified a new mutation in the NCSTN gene, which results in a premature stop codon and leads to reduced NCSTN protein levels in affected individuals.
- The research suggests that NCSTN is a novel gene associated with DDD and emphasizes the importance of examining its role in patients with both DDD and HS
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 encompassing a vertical transmission of HS.
View Article and Find Full Text PDFLow monocyte (m)HLA-DR expression is associated with mortality in sepsis. G-286A∗rs3087456 polymorphism in promoter III of HLA class II transactivator (), the master regulator of HLA, has been associated with autoimmune diseases but its role in sepsis has never been demonstrated. In 203 patients in septic shock, GG genotype was associated with 28-day mortality and mHLA-DR remained low whereas it increased in patients with AA or AG genotype.
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