MEETING REPORT
g-Secretase Mutation and Consequently Immune Reaction Involved in Pathogenesis of Acne Inversa Baoxi Wang1 The Journal of Investigative Dermatology Symposium (2015) 17, 25; doi:10.1038/jidsymp.2015.21
Acne inversa (AI) is a chronic recurrent inflammatory skin condition, and gamma secretase gene mutation was found related to familial AI. However, other scholars found that only a few familial AI patients had pathogenic gamma secretase mutation. Here, we collected another seven Chinese AI families including 32 patients and 48 normal individuals, and detected gene mutations of gamma secretase. Clinical features of patients with mutations of
nicastrin or presenilin enhancer were summarized, and serum levels of different cytokines including IL-2, IL-4, IL-5, IL-10, IL-17A, TNF-a, and IFN-g were investigated. We revealed seven novo mutations of gamma secretase in these families. Young male patients were found more frequently affected and posterior neck was the most easily affected area in patients with nicastrin or presenilin enhancer mutation. Comparing with
normal controls, we also discovered that TNF-a and IL-10 levels were elevated in AI patients with nicastrin or presenilin enhancer mutation. It was concluded that gamma secretase mutation had a close relationship with Chinese familial AI, and Chinese AI patients had specific clinical characteristics. In patients with both nicastrin and presenilin enhancer mutation, TNF-a and IL-10 may play important roles in AI pathogenesis.
1
Institute of Dermatology, Chinese Academy of Medical Sciences, Nanjing, China
Correspondence: Baoxi Wang, Institute of Dermatology, Chinese Academy of Medical Sciences, Nanjing 210042, China. E-mail: [email protected]
& 2015 The Society for Investigative Dermatology
www.jidonline.org
25
g-Secretase Mutation and Consequently Immune Reaction Involved in Pathogenesis of Acne Inversa Baoxi Wang1 The Journal of Investigative Dermatology Symposium (2015) 17, 25; doi:10.1038/jidsymp.2015.21
Acne inversa (AI) is a chronic recurrent inflammatory skin condition, and gamma secretase gene mutation was found related to familial AI. However, other scholars found that only a few familial AI patients had pathogenic gamma secretase mutation. Here, we collected another seven Chinese AI families including 32 patients and 48 normal individuals, and detected gene mutations of gamma secretase. Clinical features of patients with mutations of
nicastrin or presenilin enhancer were summarized, and serum levels of different cytokines including IL-2, IL-4, IL-5, IL-10, IL-17A, TNF-a, and IFN-g were investigated. We revealed seven novo mutations of gamma secretase in these families. Young male patients were found more frequently affected and posterior neck was the most easily affected area in patients with nicastrin or presenilin enhancer mutation. Comparing with
normal controls, we also discovered that TNF-a and IL-10 levels were elevated in AI patients with nicastrin or presenilin enhancer mutation. It was concluded that gamma secretase mutation had a close relationship with Chinese familial AI, and Chinese AI patients had specific clinical characteristics. In patients with both nicastrin and presenilin enhancer mutation, TNF-a and IL-10 may play important roles in AI pathogenesis.
1
Institute of Dermatology, Chinese Academy of Medical Sciences, Nanjing, China
Correspondence: Baoxi Wang, Institute of Dermatology, Chinese Academy of Medical Sciences, Nanjing 210042, China. E-mail: [email protected]
& 2015 The Society for Investigative Dermatology
www.jidonline.org
25
