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

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 patho...

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Autores principales: Dong, Qiuting, Zhao, Jinxia, Yao, Zhongqiang, Liu, Xiangyuan, He, Huiying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5080501/
https://www.ncbi.nlm.nih.gov/pubmed/27818686
http://dx.doi.org/10.1155/2016/5797232
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author Dong, Qiuting
Zhao, Jinxia
Yao, Zhongqiang
Liu, Xiangyuan
He, Huiying
author_facet Dong, Qiuting
Zhao, Jinxia
Yao, Zhongqiang
Liu, Xiangyuan
He, Huiying
author_sort Dong, Qiuting
collection PubMed
description 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.
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spelling pubmed-50805012016-11-06 A Case Report of X-Linked Hyperimmunoglobulin M Syndrome with Lipoma Arborescens of Knees Dong, Qiuting Zhao, Jinxia Yao, Zhongqiang Liu, Xiangyuan He, Huiying Case Rep Med Case Report 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. Hindawi Publishing Corporation 2016 2016-10-12 /pmc/articles/PMC5080501/ /pubmed/27818686 http://dx.doi.org/10.1155/2016/5797232 Text en Copyright © 2016 Qiuting Dong et al. https://creativecommons.org/licenses/by/4.0/ 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.
spellingShingle Case Report
Dong, Qiuting
Zhao, Jinxia
Yao, Zhongqiang
Liu, Xiangyuan
He, Huiying
A Case Report of X-Linked Hyperimmunoglobulin M Syndrome with Lipoma Arborescens of Knees
title A Case Report of X-Linked Hyperimmunoglobulin M Syndrome with Lipoma Arborescens of Knees
title_full A Case Report of X-Linked Hyperimmunoglobulin M Syndrome with Lipoma Arborescens of Knees
title_fullStr A Case Report of X-Linked Hyperimmunoglobulin M Syndrome with Lipoma Arborescens of Knees
title_full_unstemmed A Case Report of X-Linked Hyperimmunoglobulin M Syndrome with Lipoma Arborescens of Knees
title_short A Case Report of X-Linked Hyperimmunoglobulin M Syndrome with Lipoma Arborescens of Knees
title_sort case report of x-linked hyperimmunoglobulin m syndrome with lipoma arborescens of knees
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5080501/
https://www.ncbi.nlm.nih.gov/pubmed/27818686
http://dx.doi.org/10.1155/2016/5797232
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