このエントリーをはてなブックマークに追加
ID 47026
file
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
subject
Flow cytometry
Intracellular protein
Monoclonal antibody
Primary immunodeficiency disease
Surface protein
NDC
Medical sciences
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.
description
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
journal title
Allergology International
volume
Volume 67
issue
Issue 1
start page
43
end page
54
date of issued
2018-01
publisher
Japanese Society of Allergology
issn
1323-8930
publisher doi
pubmed id
language
eng
nii type
Journal Article
HU type
Journal Articles
DCMI type
text
format
application/pdf
text version
publisher
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/).
relation url
department
Graduate School of Biomedical & Health Sciences