Flow cytometry-based diagnosis of primary immunodeficiency diseases

• Kanegane Hirokazu

  Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU)

• Hoshino Akihiro

  Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU) Department of Lifetime Clinical Immunology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU)

• Okano Tsubasa

  Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU)

• Yasumi Takahiro

  Department of Pediatrics, Kyoto University Graduate School of Medicine

• Wada Taizo

  Department of Pediatrics, School of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University

• Takada Hidetoshi

  Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University

• Okada Satoshi

  Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences

• Yamashita Motoi

  Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU)

• Yeh Tzu-wen

  Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU)

• Nishikomori Ryuta

  Department of Pediatrics, Kyoto University Graduate School of Medicine

• Takagi Masatoshi

  Department of Community Pediatrics, Perinatal and Maternal Medicine, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU)

• Imai Kohsuke

  Department of Community Pediatrics, Perinatal and Maternal Medicine, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU)

• Ochs Hans D.

  Department of Pediatrics, University of Washington, and Seattle Children's Research Institute

• Morio Tomohiro

  Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU)

抄録

Primary immunodeficiencies (PIDs) are a heterogeneous group of inherited diseases of the immune system. The definite diagnosis of PID is ascertained by genetic analysis; however, this takes time and is costly. Flow cytometry provides a rapid and highly sensitive tool for diagnosis of PIDs. Flow cytometry can evaluate specific cell populations and subpopulations, cell surface, intracellular and intranuclear proteins, biologic effects associated with specific immune defects, and certain functional immune characteristics, each being useful for the diagnosis and evaluation of PIDs. Flow cytometry effectively identifies major forms of PIDs, including severe combined immunodeficiency, X-linked agammaglobulinemia, hyper IgM syndromes, Wiskott-Aldrich syndrome, X-linked lymphoproliferative syndrome, familial hemophagocytic lymphohistiocytosis, autoimmune lymphoproliferative syndrome, IPEX syndrome, CTLA 4 haploinsufficiency and LRBA deficiency, IRAK4 and MyD88 deficiencies, Mendelian susceptibility to mycobacterial disease, chronic mucocuneous candidiasis, and chronic granulomatous disease. While genetic analysis is the definitive approach to establish specific diagnoses of PIDs, flow cytometry provides a tool to effectively evaluate patients with PIDs at relatively low cost.

収録刊行物

• Allergology International

  Allergology International 67 (1), 43-54, 2018

  一般社団法人日本アレルギー学会

キーワード

• Flow cytometry
• Intracellular protein
• Monoclonal antibody
• Primary immunodeficiency disease
• Surface protein

詳細情報

• CRID: 1390282679609017216
• NII論文ID: 130006322088
• DOI: 10.1016/j.alit.2017.06.003
• ISSN: 14401592
• ISSN: 13238930
• HANDLE: 2433/230807
• Web Site: http://ir.lib.hiroshima-u.ac.jp/00047026
• Web Site: https://api.elsevier.com/content/article/PII:S1323893017300679?httpAccept=text/xml
• Web Site: https://api.elsevier.com/content/article/PII:S1323893017300679?httpAccept=text/plain
• Web Site: https://search.jamas.or.jp/link/ui/2019170468
• 本文言語コード: en
• データソース種別:
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  • IRDB
  • Crossref
  • CiNii Articles
  • KAKEN
• 抄録ライセンスフラグ: 使用不可