國家衛生研究院 NHRI:Item 3990099045/14813
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    题名: Lymphocyte disturbance and functional assessment of the [Asp521Asn] ZAP70 mutation
    作者: Lin, YF;Lee, WI;Ho, CH;Chen, SH;Hsu, MH;Wu, RC;Lee, WF;Jaing, TH;Huang, JL;Tsai, SF
    贡献者: Institute of Molecular and Genomic Medicine
    摘要: Activated zeta-chain-associated protein kinase 70 (ZAP70) phosphorylates the TCRαβ:CD3:zeta complex to diversify and amplify TCR signaling. Patients with ZAP70 mutations can present with phenotypes of immune dysregulation as well as infection. We identified the first Taiwanese boy with the [Asp521Asn] ZAP70 mutation who presented with recurrent pneumonia, inflammatory bowel disease-like diarrhea, transient hematuria and autoimmune hepatitis. He had isolated CD8 lymphopenia, eosinophilia, hypogammaglobulinemia, and impaired lymphocyte proliferation. Downstream CD3/CD28 signaling, phosphorylation of AKT, ZAP70 and Ca2+ influx were decreased in [Asp521Asn] ZAP70 lymphocytes. Immunophenotyping analysis revealed expansion of transitional B and CD21-low B cells, Th2-skewing T follicular helper cells, but lower Treg cells. The Asp521Asn-ZAP70 hindered TCR-CD3 downstream phosphorylation and disturbed lymphocyte subgroup “profiles” leading to autoimmunity/autoinflammation. Further large-scale studies are warranted to clarify this lymphocyte disturbance. The prognosis significantly depends on hematopoietic stem cell transplantation, but not the genotype, the presence of opportunistic infections or immune dysregulation.
    日期: 2023-02
    關聯: Clinical Immunology. 2023 Feb;247:Article number 109236.
    Link to: http://dx.doi.org/10.1016/j.clim.2023.109236
    JIF/Ranking 2023: http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=NHRI&SrcApp=NHRI_IR&KeyISSN=1521-6616&DestApp=IC2JCR
    Cited Times(WOS): https://www.webofscience.com/wos/woscc/full-record/WOS:000964802900001
    Cited Times(Scopus): https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=85146650635
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