Flow cytometry-based diagnosis of primary immunodeficiency diseases期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

Flow cytometry-based diagnosis of primary immunodeficiency diseases

Authors:	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

Affiliation:	1. Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan;2. Department of Lifetime Clinical Immunology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan;3. Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan;4. Department of Pediatrics, School of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University, Kanazawa, Japan;5. Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan;6. Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan;g. Department of Community Pediatrics, Perinatal and Maternal Medicine, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan;h. Department of Pediatrics, University of Washington, and Seattle Children''s Research Institute, Seattle, WA, USA

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 ADA adenosine deaminase ALPS autoimmune lymphoproliferative syndrome APECED autoimmune polyendocrinopathy-candidiasis–ectodermal dystrophy/dysplasia BAFF-R B-cell activating factor receptor BTK Burton's tyrosine kinase CD40L CD40 ligand CGD chronic granulomatous disease CMCD chronic mucocutaneous candidiasis CTLA4 cytotoxic T-lymphocyte-associated protein 4 CTLs cytotoxic T lymphocytes CVID common variable immunodeficiency DHR dihydrorhodamine DNT double-negative T DOCK8 dedicator of cytokinesis 8 FHL familial hemophagocytic lymphohistiocytosis FOXP3 forkhead box P3 HIES hyper IgE syndrome HIGM hyper IgM syndrome ICOS inducible co-stimulator IFN interferon iNKT invariant natural killer T IPEX immune dysregulation, polyendocrinopathy, enteropathy, X-linked inheritance syndrome IRAK4 IL-1 receptor-associated kinase 4 JAK3 Janus kinase 3 LAD leukocyte adhesion deficiency LPS lipopolysaccharide LRBA lipopolysaccharide-responsive and beige-like anchor protein mAb monoclonal antibody MSMD Mendelian susceptibility to mycobacterial disease MyD88 myeloid differentiation primary response gene 88 NOD nucleotide-binding and oligomerization domain PBMCs peripheral blood mononuclear cells PIDs primary immunodeficiency diseases PNP purine nucleoside phosphorylase RAG recombination activating gene SAP SLAM-associated protein SCID severe combined immunodeficiency STAT signal transducer and activator of transcription TCR T-cell receptor Th T helper TLR Toll-like receptor TNF tumor necrosis factor WAS Wiskott-Aldrich syndrome WASp WAS protein XIAP X-linked inhibitor of apoptosis XLA X-linked agammaglobulinemia XLP X-linked lymphoproliferative syndrome XLT X-linked thrombocytopenia X-SCID X-linked severe combined immunodeficiency ZAP70 ζ-chain-associated protein kinase of 70 kDa
本文献已被 ScienceDirect 等数据库收录！

设为首页 | 免责声明 | 关于勤云 | 加入收藏