Flow cytometry-based diagnosis of primary immunodeficiency diseases

Hirokazu Kanegane, Akihiro Hoshino, Tsubasa Okano, Takahiro Yasumi, Taizo Wada, Hidetoshi Takada, Satoshi Okada, Motoi Yamashita, Tzu wen Yeh, Ryuta Nishikomori, Masatoshi Takagi, Kohsuke Imai, Hans D. Ochs, Tomohiro Morio

Research output: Contribution to journalReview article

20 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)43-54
Number of pages12
JournalAllergology International
Volume67
Issue number1
DOIs
Publication statusPublished - Jan 1 2018

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Flow Cytometry
Type 1 Hyper-IgM Immunodeficiency Syndrome
Autoimmune Lymphoproliferative Syndrome
Wiskott-Aldrich Syndrome
Hemophagocytic Lymphohistiocytosis
Chronic Granulomatous Disease
Haploinsufficiency
Severe Combined Immunodeficiency
Lymphoproliferative Disorders
Candidiasis
Immune System Diseases
Chronic Disease
Costs and Cost Analysis
Population
Proteins

All Science Journal Classification (ASJC) codes

  • Immunology and Allergy

Cite this

Kanegane, H., Hoshino, A., Okano, T., Yasumi, T., Wada, T., Takada, H., ... Morio, T. (2018). Flow cytometry-based diagnosis of primary immunodeficiency diseases. Allergology International, 67(1), 43-54. https://doi.org/10.1016/j.alit.2017.06.003

Flow cytometry-based diagnosis of primary immunodeficiency diseases. / Kanegane, Hirokazu; Hoshino, Akihiro; Okano, Tsubasa; Yasumi, Takahiro; Wada, Taizo; Takada, Hidetoshi; Okada, Satoshi; Yamashita, Motoi; Yeh, Tzu wen; Nishikomori, Ryuta; Takagi, Masatoshi; Imai, Kohsuke; Ochs, Hans D.; Morio, Tomohiro.

In: Allergology International, Vol. 67, No. 1, 01.01.2018, p. 43-54.

Research output: Contribution to journalReview article

Kanegane, H, Hoshino, A, Okano, T, Yasumi, T, Wada, T, Takada, H, Okada, S, Yamashita, M, Yeh, TW, Nishikomori, R, Takagi, M, Imai, K, Ochs, HD & Morio, T 2018, 'Flow cytometry-based diagnosis of primary immunodeficiency diseases', Allergology International, vol. 67, no. 1, pp. 43-54. https://doi.org/10.1016/j.alit.2017.06.003
Kanegane H, Hoshino A, Okano T, Yasumi T, Wada T, Takada H et al. Flow cytometry-based diagnosis of primary immunodeficiency diseases. Allergology International. 2018 Jan 1;67(1):43-54. https://doi.org/10.1016/j.alit.2017.06.003
Kanegane, Hirokazu ; Hoshino, Akihiro ; Okano, Tsubasa ; Yasumi, Takahiro ; Wada, Taizo ; Takada, Hidetoshi ; Okada, Satoshi ; Yamashita, Motoi ; Yeh, Tzu wen ; Nishikomori, Ryuta ; Takagi, Masatoshi ; Imai, Kohsuke ; Ochs, Hans D. ; Morio, Tomohiro. / Flow cytometry-based diagnosis of primary immunodeficiency diseases. In: Allergology International. 2018 ; Vol. 67, No. 1. pp. 43-54.
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