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A Case Report of X-Linked Hyperimmunoglobulin M Syndrome with Lipoma Arborescens of Knees
Qiuting Dong1, Jinxia Zhao2, Zhongqiang Yao2
1Department of Rheumatology & Immunology, Peking University Third Hospital, 49 North Garden Rd., Haidian District, Beijing 100191, China; Center for Coronary Heart Disease, Fu Wai Hospital and Cardiovascular Institute, Peking Union Medical College and Chinese Academy of Medical Sciences, 167 Beilishi Rd., Beijing 100037, China.
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.