Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8736264 | Allergology International | 2018 | 12 Pages |
Abstract
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
Intracellular proteinICOSHyper IgM syndromeCMCDB-cell activating factor receptorCVIDXLABAFF-RCTLA4X-linked lymphoproliferative syndromeHyper IgE syndromeCD40LSLAM-associated proteinCGDiNKTRAGT helperDOCK8IRAK4HIESXIAPHIGMJAK3APECEDIPEXZAP70WASPLPSWAS proteinFOXP3mAbDNTMSMDMYD88TCrnucleotide-binding and oligomerization domainJanus kinase 3DHRFHLPNPXLTNODTLRTNFLRBASCIDX-linked thrombocytopeniaPBMCsX-SCIDXLPPIDsBtkCTLsadenosine deaminaseSTATMonoclonal antibodyX-linked agammaglobulinemiainterferonIFNWASPrimary immunodeficiency diseasePrimary immunodeficiency diseaseschronic granulomatous diseaseToll-like receptorforkhead box P3Mendelian susceptibility to mycobacterial diseasedihydrorhodamineAlpsperipheral blood mononuclear cellsWiskott-Aldrich syndromeautoimmune lymphoproliferative syndromeSAPinvariant natural killer Ttumor necrosis factorRecombination Activating GeneFlow cytometryLADCytotoxic T lymphocytesfamilial hemophagocytic lymphohistiocytosislipopolysaccharideCD40 ligandSignal transducer and activator of transcriptionDedicator of cytokinesis 8Inducible co-stimulatorX-linked inhibitor of apoptosisADAmyeloid differentiation primary response gene 88Surface proteincytotoxic T-lymphocyte-associated protein 4Purine nucleoside phosphorylasechronic mucocutaneous candidiasisCommon variable immunodeficiencyX-linked severe combined immunodeficiencysevere combined immunodeficiencyLeukocyte adhesion deficiencyT-cell receptor
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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,