Flow cytometry-based diagnosis of primary immunodeficiency diseases
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 cyto...
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doaj-8ebd6cfe06e64dfcbe7cf81567adaa1c2020-11-24T23:00:30ZengElsevierAllergology International1323-89302018-01-01671435410.1016/j.alit.2017.06.003Flow cytometry-based diagnosis of primary immunodeficiency diseasesHirokazu Kanegane0Akihiro Hoshino1Tsubasa Okano2Takahiro Yasumi3Taizo Wada4Hidetoshi Takada5Satoshi Okada6Motoi Yamashita7Tzu-wen Yeh8Ryuta Nishikomori9Masatoshi Takagi10Kohsuke Imai11Hans D. Ochs12Tomohiro Morio13Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, JapanDepartment of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, JapanDepartment of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, JapanDepartment of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, JapanDepartment of Pediatrics, School of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University, Kanazawa, JapanDepartment of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, JapanDepartment of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, JapanDepartment of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, JapanDepartment of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, JapanDepartment of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, JapanDepartment of Community Pediatrics, Perinatal and Maternal Medicine, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, JapanDepartment of Community Pediatrics, Perinatal and Maternal Medicine, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, JapanDepartment of Pediatrics, University of Washington, and Seattle Children's Research Institute, Seattle, WA, USADepartment of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, JapanPrimary 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.http://www.sciencedirect.com/science/article/pii/S1323893017300679Flow cytometryIntracellular proteinMonoclonal antibodyPrimary immunodeficiency diseaseSurface protein |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
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 |
spellingShingle |
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 Flow cytometry-based diagnosis of primary immunodeficiency diseases Allergology International Flow cytometry Intracellular protein Monoclonal antibody Primary immunodeficiency disease Surface protein |
author_facet |
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 |
author_sort |
Hirokazu Kanegane |
title |
Flow cytometry-based diagnosis of primary immunodeficiency diseases |
title_short |
Flow cytometry-based diagnosis of primary immunodeficiency diseases |
title_full |
Flow cytometry-based diagnosis of primary immunodeficiency diseases |
title_fullStr |
Flow cytometry-based diagnosis of primary immunodeficiency diseases |
title_full_unstemmed |
Flow cytometry-based diagnosis of primary immunodeficiency diseases |
title_sort |
flow cytometry-based diagnosis of primary immunodeficiency diseases |
publisher |
Elsevier |
series |
Allergology International |
issn |
1323-8930 |
publishDate |
2018-01-01 |
description |
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. |
topic |
Flow cytometry Intracellular protein Monoclonal antibody Primary immunodeficiency disease Surface protein |
url |
http://www.sciencedirect.com/science/article/pii/S1323893017300679 |
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