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雑誌文献

臨床検査53巻5号

2009年05月発行

文献概要

今月の主題 免疫不全症候群と遺伝子異常 免疫不全症の臨床検査

免疫不全症のFACSによる簡易診断法

著者: 金兼弘和1 堺千賀子1 宮脇利男1

所属機関: 1富山大学医学部小児科

ページ範囲:P.541 - P.546

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 免疫不全症は生体の免疫系を維持するうえで必要な免疫担当分子の先天的欠陥によって生じる.障害部位によって分類され,150種類以上からなる雑多な症候群であるが,120種類以上で責任遺伝子が同定されており,遺伝子診断による確定診断が可能である.しかし遺伝子解析には時間と労力を要する.利用可能なモノクローナル抗体があればFACSによる簡易診断が可能な疾患がいくつかあり,本稿では免疫不全症におけるFACSによる簡易診断法について紹介したい.

参考文献

1) Geha RS, Notarangelo LD, Casanova JL, et al:Primary immunodeficiency diseases:an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. J Allergy Clin Immunol 120:776-794, 2007
2) Illoh OC:Current application of flow cytometry in the diagnosis of primary immunodeficiency diseases. Arch Pathol Lab Med 128:23-31, 2004
3) Takada H, Yoshikawa H, Imaizumi M, et al:Delayed separation of the umbilical cord in two siblings with interleukin-1 receptor-associated kinase 4 deficiency:rapid screening by flow cytometer. J Pediatr 148:546-548, 2006
4) Rigaud S, Fondanèche MC, Lambert N, et al:XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. Nature 444:110-114, 2006
5) Futatani T, Miyawaki T, Tsukada S, et al:Deficient expression of Bruton' s tyrosine kinase in monocytes from X-linked agammaglobulinemia as evaluated by a flow cytometric analysis and its clinical application to carrier detection. Blood 91:595-602, 1998
6) Kanegane H, Futatani T, Wang Y, et al:Clinical and mutational characteristics of X-linked agammaglobulinemia and its carrier identified by flow cytometric assessment combined with genetic analysis. J Allergy Clin Immunol 108:1012-1020, 2001
mutations in Japanese males with severe Epstein-Barr virus-associated illnesses. Blood 98:1268-1270, 2001
8) Shinozaki K, Kanegane H, Matsukura H, et al:Activation-dependent T cell expression of the X-linked lymphoproliferative disease gene product SLAM-associated protein and its assessment for patient detection. Int Immunol 14:1215-1223, 2002
9) Kumaki S, Ishii N, Minegishi M, et al:Characterization of the gammac chain among 27 unrelated Japanese patients with X-linked severe combined immunodeficiency(X-SCID). Hum Genet 107:406-408, 2000
10) Otsu M, Hershfield MS, Tuschong LM, et al:Flow cytometric analysis of adenosine deaminase(ADA)expression:a simple and reliable tool for the assessment of ADA-deficient patients before and after gene therapy. Hum Gene Ther 13:425-432, 2002
11) Yamada M, Ohtsu M, Kobayashi I, et al:Flow cytometric analysis of Wiskott-Aldrich syndrome(WAS)protein in lymphocytes from WAS patients and their familial carriers. Blood 93:756-757, 1999
12) Kanegane H, Nomura K, Miyawaki T, et al:X-linked thrombocytopenia identified by flow cytometric demonstration of defective Wiskott-Aldrich syndrome protein in lymphocytes. Blood 95:1110-1111, 2000
13) Yamaguchi K, Ariga T, Yamada M, et al:Mixed chimera status of 12 patients with Wiskott-Aldrich syndrome(WAS)after hematopoietic stem cell transplantation:evaluation by flow cytometric analysis of intracellular WAS protein expression. Blood 100:1208-1214, 2002
14) Rondacor G, Brown PJ, Maestre L, et al:Analysis of FOXP3 protein expression in human CD4+CD25+regulatory T cells at the single-cell level. Eur J Immunol 35:1681-1691, 2005
gene mutations. Clin Immunol 125:237-246, 2007

掲載誌情報

出版社:株式会社医学書院

電子版ISSN:1882-1367

印刷版ISSN:0485-1420

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