Immunophenotyping of A20 haploinsufficiency by multicolor flow cytometry.

• 影响指数: 10.19
• 发表时间: 07 2020
• 来源期刊: Clin Immunol
• DOI: 10.1016/j.clim.2020.108441
• PMID: 32335289
• 文章类型: Journal Article
• 中科院分区: Q2
• 方向: 医学
• 作者列表: Kadowaki T,Ohnishi H,Kawamoto N,Kadowaki S,Hori T,Nishimura K,Kobayashi C,Shigemura T,Ogata S,Inoue Y,Hiejima E,Izawa K,Matsubayashi T,Matsumoto K,Imai K,Nishikomori R,Ito S,Kanegane H,Fukao T

关键词: Autoimmunity; Double-negative T cell; Follicular helper T cell; Haploinsufficiency of A20; Regulatory T cell; TNFAIP3

Mesh: Adolescent; Adult; Autoimmune Diseases / immunology; Behcet Syndrome / immunology; Child; Child, Preschool; Female; Flow Cytometry / methods; Haploinsufficiency / immunology; Humans; Immunophenotyping / methods; Infant; Male; Phenotype; T-Lymphocytes, Helper-Inducer / immunology; T-Lymphocytes, Regulatory / immunology; Young Adult

Abstract

Haploinsufficiency of A20 (HA20) causes inflammatory disease resembling Behçet\'s disease; many cases have been reported, including some that are complicated with autoimmune diseases. This study aims to clarify the immunophenotype of patients with HA20 by analyzing lymphocyte subsets using multicolor flow cytometry. The patients with HA20 previously diagnosed in a nationwide survey were compared by their cell subpopulations. In total, 27 parameters including regulatory T cells (Tregs), double-negative T cells (DNTs), and follicular helper T cells (TFHs) were analyzed and compared with the reference values in four age groups: 0-1, 2-6, 7-19, and ≥20 years. The Tregs of patients with HA20 tended to increase in tandem with age-matched controls at all ages. In addition, patients ≥20 years had increased DNTs compared with controls, whereas TFHs significantly increased in younger patients. In HA20 patients, the increase in DNTs and TFHs may contribute to the development of autoimmune diseases.