Flow cytometry-based diagnosis of primary immunodeficiency diseases
Allergology International Volume 67 Issue 1
Page 43-54
published_at 2018-01
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| File | |
| Title ( eng ) |
Flow cytometry-based diagnosis of primary immunodeficiency diseases
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| Creator |
Kanegane Hirokazu
Hoshino Akihiro
Okano Tsubasa
Yasumi Takahiro
Wada Taizo
Takada Hidotoshi
Yamashita Motoi
Yeh Tzu-wen
Nishikomori Ryuta
Takagi Masatoshi
Imai Kohsuke
Ochs Hans D.
Morio Tomohiro
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| Source Title |
Allergology International
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| Volume | 67 |
| Issue | 1 |
| Start Page | 43 |
| End Page | 54 |
| 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. |
| Keywords |
Flow cytometry
Intracellular protein
Monoclonal antibody
Primary immunodeficiency disease
Surface protein
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| Descriptions |
This study was supported by grants from the Ministry of Education, Culture, Sports, Science, and Technology of Japan and the Ministry of Health, Labour, and Welfare of Japan.
Supplementary data related to this article can be found at http://dx.doi.org/10.1016/j.alit.2017.06.003
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| NDC |
Medical sciences [ 490 ]
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| Language |
eng
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| Resource Type | journal article |
| Publisher |
Japanese Society of Allergology
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| Date of Issued | 2018-01 |
| Rights |
Copyright © 2017, Japanese Society of Allergology. Production and hosting by Elsevier B.V. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
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| Publish Type | Version of Record |
| Access Rights | open access |
| Source Identifier |
[ISSN] 1323-8930
[DOI] 10.1016/j.alit.2017.06.003
[PMID] 28684198
[DOI] https://doi.org/10.1016/j.alit.2017.06.003
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