Flow cytometry-based diagnosis of primary immunodeficiency diseases

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Author(s)

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

Abstract

<p>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.</p><p>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.</p>

Journal

  • Allergology International

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

    Japanese Society of Allergology

Codes

  • NII Article ID (NAID)
    130006322088
  • Text Lang
    ENG
  • Article Type
    journal article
  • ISSN
    1323-8930
  • Data Source
    IR  J-STAGE 
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