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Case Reports in Medicine
Volume 2016, Article ID 5797232, 4 pages
http://dx.doi.org/10.1155/2016/5797232
Case Report

A Case Report of X-Linked Hyperimmunoglobulin M Syndrome with Lipoma Arborescens of Knees

1Department of Rheumatology & Immunology, Peking University Third Hospital, 49 North Garden Rd., Haidian District, Beijing 100191, China
2Center 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
3Department of Pathology, Peking University Third Hospital, 49 North Garden Rd., Haidian District, Beijing 100191, China

Received 19 June 2016; Revised 29 August 2016; Accepted 8 September 2016

Academic Editor: Toshiyuki Fukao

Copyright © 2016 Qiuting Dong et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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.