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.

中文翻译：

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通过多色流式细胞术对A20单倍剂量不足进行免疫分型。

A20（HA20）的单倍剂量不足会引起类似于白塞氏病的炎症性疾病；已经报道了许多病例，包括一些并发自身免疫性疾病的病例。本研究旨在通过使用多色流式细胞仪分析淋巴细胞亚群来阐明HA20患者的免疫表型。将先前在全国性调查中诊断出的HA20患者的细胞亚群进行了比较。总共分析了27个参数，包括调节性T细胞（Treg），双阴性T细胞（DNT）和滤泡辅助性T细胞（TFHs），并将其与四个年龄段的参考值进行比较：0-1、2-6 ，7-19岁及≥20年。在所有年龄段，与年龄匹配的对照组相比，HA20患者的Treg均趋于增加。此外，与对照组相比，≥20岁的患者的DNT升高，而TFHs在年轻患者中显着增加。在HA20患者中，DNT和TFH的增加可能有助于自身免疫疾病的发展。