A Case Report of X-Linked Hyperimmunoglobulin M Syndrome with Lipoma Arborescens of Knees. (12th October 2016)

• Record Type: Journal Article
• Authors: Dong, Qiuting; Zhao, Jinxia; Yao, Zhongqiang; Liu, Xiangyuan; He, Huiying
• Other Names: Fukao Toshiyuki Academic Editor.
• Is Part Of: Case reports in medicine. Volume 2016(2016)
• Publication Date: 2016-10-12
• Subjects: Medicine -- Periodicals; Medicine -- Periodicals; Medicine; Case Reports; Periodicals; 610
• DOI: 10.1155/2016/5797232
• Languages: English
• ISSNs: 1687-9627

Abstract

Abstract : The X-linked hyperimmunoglobulin M syndrome (HIGM), caused by mutations in the CD40LG gene, is a kind of primary immunodeficiency disease (PID). Patients with X-linked HIGM are susceptible to infection as well as autoimmune diseases. Lipoma arborescens (LA) is a rare benign tumor, of which the pathogenesis mechanism has not been clearly understood. We report a case of HIGM combined with LA in a 22-year-old male patient. A new deletion mutation of CD40LG gene was detected in this case. The possible relationship between HIGM and LA was also discussed.