X連鎖無ガンマグロブリン血症, ブルトン型無ガンマグロブリン血症
WordNet
- a rare immunological disorder characterized by the virtual absence of gamma globulin in the blood and consequent susceptibility to infection
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English Journal
- A postmeningitic cochlear implant patient who was postoperatively diagnosed as having X-linked agammaglobulinemia.
- Minoda R, Takahashi H, Miyamaru S, Masuda M, Miwa T, Sanuki T, Hirai T, Yumoto E.SourceDepartment of Otolaryngology Head and Neck Surgery, Graduate School of Medicine, Kumamoto University, 1-1-1 Honjo, Kumamoto, Japan. minoda@gpo.kumamoto-u.ac.jp
- Auris, nasus, larynx.Auris Nasus Larynx.2012 Dec;39(6):638-40. doi: 10.1016/j.anl.2011.12.005. Epub 2012 Feb 16.
- X-linked agammaglobulinemia (XLA) is caused by a mutation in the Bruton tyrosine kinase, leading to an arrest in B cell development. Consequently, patients with XLA show significant decreases in gammaglobulin. Here, we describe a child with postmeningitic deafness and XLA who underwent a cochlear im
- PMID 22341605
- Debilitating progressive encephalitis in a patient with BTK deficiency.
- Mohammadzadeh I, Yeganeh M, Khaledi M, Salehiomran MR, Aghamohammadi A, Rezaei N.SourceBabol University of Medical Sciences, Non-Communicable Pediatric Diseases Research Center, Babol, Iran.
- Acta microbiologica et immunologica Hungarica.Acta Microbiol Immunol Hung.2012 Sep;59(3):335-42. doi: 10.1556/AMicr.59.2012.3.4.
- X-linked agammaglobulinemia (XLA), also known as Bruton's tyrosine kinase (BTK) deficiency, is a primary antibody deficiency, characterized by low number of B cells, agammaglobulinemia and increased susceptibility to a variety of infections. Herein, we report a case of XLA with confirmed BTK mutatio
- PMID 22982637
- Bruton tyrosine kinase inhibition is a novel therapeutic strategy targeting tumor in the bone marrow microenvironment in multiple myeloma.
- Tai YT, Chang BY, Kong SY, Fulciniti M, Yang G, Calle Y, Hu Y, Lin J, Zhao JJ, Cagnetta A, Cea M, Sellitto MA, Zhong MY, Wang Q, Acharya C, Carrasco DR, Buggy JJ, Elias L, Treon SP, Matsui W, Richardson P, Munshi NC, Anderson KC.SourceLeBow Institute for Myeloma Therapeutics and Jerome Lipper Center for Multiple Myeloma Research, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA 02215, USA. yu-tzu_tai@dfci.harvard.edu
- Blood.Blood.2012 Aug 30;120(9):1877-87. doi: 10.1182/blood-2011-12-396853. Epub 2012 Jun 11.
- Bruton tyrosine kinase (Btk) has a well-defined role in B-cell development, whereas its expression in osteoclasts (OCs) further suggests a role in osteoclastogenesis. Here we investigated effects of PCI-32765, an oral and selective Btk inhibitor, on osteoclastogenesis as well as on multiple myeloma
- PMID 22689860
Japanese Journal
- ブルトン・チロシン・キナーゼの第1イントロンにおける転写調節異常
- SHIN Dong-Min,JO Eun-Kyeong,KANEGANE Hirokazu,FUTATANI Takeshi,ZHAO Meina,SONG Chang-Hwa,YAMAGISHI Atsushi,MIYAWAKI Toshio
- Pediatrics international : official journal of the Japan Pediatric Society 50(6), 801-805, 2008-12-01
- NAID 10025345571
- 気管支拡張症にて発見された成人X連鎖無γグロブリン血症の1例 : 8年間におけるCT所見の変化
- 石黒 卓,高柳 昇,川田 一郎,倉島 一喜,松下 文,原澤 慶次,土屋 典子,米田 紘一郎,宮原 庸介,山口 昭三郎,矢野 量三,徳永 大道,斉藤 大雄,生方 幹夫,柳澤 勉,杉田 裕
- 日本呼吸器学会雑誌 = The journal of the Japanese Respiratory Society 46(4), 331-335, 2008-04-10
- NAID 10024435428
Related Links
- X-linked agammaglobulinemia (XLA), or Bruton agammaglobulinemia, is an inherited immunodeficiency disease caused by mutations in the gene coding for Bruton tyrosine kinase (BTK). The disease was first elucidated ...
- Agammaglobulinemia is a disorder passed down through families in which a person has very low levels of protective immune system proteins called immunoglobulins. Immunoglobulins are a type of antibody. Low levels of ...
★リンクテーブル★
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- 英
- X-linked agammaglobulinemia, XLA, Bruton's X-linked agammaglobulinemia, Bruton's agammaglobulinemia
- 同
- X連鎖無γグロブリン血症、X連鎖無γ-グロブリン血症。ブルトン型無ガンマグロブリン血症, ブルトン型無γグロブリン血症, Bruton's agammaglobulinemia, Bruton agammaglobulinemia。Bruton's X-linked agammaglobulinemia。ブルトン病
- 関
- 無ガンマグロブリン血症、成長ホルモン欠損を伴うX連鎖無γグロブリン血症、免疫不全症候群
[show details]
概念
病因
- チロシンキナーゼ遺伝子の欠損 → 低レベルの免疫グロブリンしか産生されない
- IgM↓、IgA↓、IgD↓、IgE↓
遺伝
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無ガンマグロブリン血症、無γグロブリン血症