Article
High Copy Numbers of β-Defensin Cluster on 8p23.1, Confer Genetic Susceptibility, and Modulate the Physical Course of Hidradenitis Suppurativa/Acne Inversa.
The Journal of investigative dermatology - 1 Aug 2016
Giamarellos-Bourboulis Evangelos J, Platzer Matthias, Karagiannidis Ioannis, Kanni Theodora, Nikolakis Georgios, Ulrich Jens, Bellutti Michael, Gollnick Harald, Bauer Michael, Zouboulis Christos C, Huse Klaus
Abstract excerpt
Hidradenitis suppurativa/acne inversa (HS) has a multifactorial pathogenesis, with many patients reporting positive family history. Nine β-defensin genes (among them DEFB4 and DEFB103, encoding for proinflammatory mediators human β-defensin-2 and human β-defensin-3, respectively) exist as a cluster (DEFB) affected by copy number (CN). We hypothesized that CNs are greater in patients with HS and that they are...
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