高IgM症候群。hyper-IgM syndrome
PrepTutorEJDIC
- Hawaii
UpToDate Contents
全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.
English Journal
- X-linked hyper-IgM syndrome with eosinophilia in a male child: A case report.
- Guo LI1, Chen BO2, Xu B3, Lu M1, Ning B4, Chen Z4.
- Experimental and therapeutic medicine.Exp Ther Med.2015 Apr;9(4):1328-1330. Epub 2015 Feb 5.
- The hyper-IgM syndromes (HIGMs) are a group of primary immune deficiency diseases characterized by a normal or elevated serum level of IgM and low or absent serum levels of IgG, IgA and IgE. Here, we report a case of X-linked HIGM with a new CD40L gene mutation presenting with eosinophilia. The pati
- PMID 25780430
- A novel CD40LG deletion causes the hyper-IgM syndrome with normal CD40L expression in a 6-month-old child.
- López-Herrera G1, Maravillas-Montero JL, Vargas-Hernández A, Berrón-Ruíz L, Ramírez-Sánchez E, Yamazaki-Nakashimada MA, Espinosa-Rosales FJ, Santos-Argumedo L.
- Immunologic research.Immunol Res.2015 Mar 10. [Epub ahead of print]
- The X-linked hyper-IgM syndrome (XHIGM) is the most common form of HIGM. Patients are clinically diagnosed on the basis of recurrent sinopulmonary infections, accompanied with low levels of IgG and IgA, normal to elevated levels of IgM, and the presence of peripheral B cells. Here, we have reported
- PMID 25752457
- X-linked hyper-IgM syndrome with CD40LG mutation: two case reports and literature review in Taiwanese patients.
- Tsai HY1, Yu HH1, Chien YH1, Chu KH2, Lau YL3, Lee JH1, Wang LC1, Chiang BL1, Yang YH4.
- Journal of microbiology, immunology, and infection = Wei mian yu gan ran za zhi.J Microbiol Immunol Infect.2015 Feb;48(1):113-8. doi: 10.1016/j.jmii.2012.07.004. Epub 2012 Sep 24.
- Hyper-IgM syndrome (HIGM) is a rare primary immunodeficiency disorder characterized by elevated or normal serum IgM and decreased IgG, IgA, and IgE due to defective immunoglobulin class switching. X-linked HIGM (XHIGM, HIGM1) is the most frequent type, is caused by mutations in the CD40 ligand gene,
- PMID 23010537
Japanese Journal
- Introduction of a CD40L genomic fragment via a human artificial chromosome vector permits cell-type-specific gene expression and induces immunoglobulin secretion
- Yamada Hidetoshi,Li Yanze C.,Nishikawa Mitsuo [他],OSHIMURA Mitsuo,INOUE Toshiaki
- Journal of human genetics 53(5), 447-453, 2008-05-01
- NAID 10021248965
- 小児期より感染を繰り返し28歳で初めて診断された1型高IgM症候群
- 小池 道明,押味 和夫,上松 一永 [他],二谷 武
- 臨床血液 = The Japanese Journal of Clinical Hematology 47(10), 1377-1380, 2006-10-30
- NAID 10018306780
- UNG欠損による免疫グロブリンクラススイッチ障害 (獲得免疫)
Related Links
- Acronym Definition HIGM Hyperimmunoglobulin M (syndrome) HIGM Hukuk Isleri Genel Müdürlügü (Turkish: General Directorate of Legal Affairs) ... Disclaimer All content on this website, including dictionary, thesaurus, literature ...
- HIGM. Home Indoor Garden Market ... We hope you can find everything you need. HIGM is focused on providing high-quality service and customer satisfaction - we will do everything we can to meet your expectations With a variety of ...
Related Pictures
★リンクテーブル★
[★]
- 英
- hyper-IgM syndrome HIMS, hyper-IgM syndrome HIGM
- 同
- IgM増加を伴う抗体欠乏症
原因遺伝子
- avtivation-induced cytosine deaminase
- RNA editing enzyme
概念
病型
- 高IgM症候群1型 HIGM1
- 高IgM症候群2型 HIGM2
- 高IgM症候群3型 HIGM3
遺伝
- 多くの場合。男児のみ。
- 遺伝子座:Xq28
病因
- 免疫グロブリンのクラススイッチ機構の異常→IgM産生可能。IgG、IgA、IgE産生不可
-
- 活性化T細胞上のCD40リガンド(CD154)の遺伝子異常→CD40シグナルを介したB細胞のクラススイッチがおきない
疫学
症状
- XLAと同じく化膿菌の易感染性
- 細胞性免疫不全によるカリニ肺炎の発症
診断
- 血清免疫グロブリン値の検査値
- X連鎖劣性遺伝のものでは、活性化T細胞のCD154分子の有無をフローサイトメトリーで分析
- 確定診断:CD154またはAID遺伝子解析
検査
- 血清IgMは正常または高値
- 血清IgG、IgA、IgEは低値
- 一部の症例では好中球減少
治療
- 免疫グロブリン置換療法
- カリニ肺炎の治療・予防→ST合剤の内服
- 造血幹細胞移植
予後
予防
[★]
赤血球凝集抑制試験