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Non-organ-specific autoimmunity in adult 47,XXY Klinefelter patients and higher-grade X-chromosome aneuploidies
Clinical & Experimental Immunology ( IF 3.4 ) Pub Date : 2021-05-12 , DOI: 10.1111/cei.13616 Francesca Panimolle 1 , Claudio Tiberti 1 , Matteo Spaziani 1 , Gloria Riitano 2 , Giuseppe Lucania 2 , Antonella Anzuini 1 , Andrea Lenzi 1 , Daniele Gianfrilli 1 , Maurizio Sorice 2 , Antonio F Radicioni 1
Clinical & Experimental Immunology ( IF 3.4 ) Pub Date : 2021-05-12 , DOI: 10.1111/cei.13616 Francesca Panimolle 1 , Claudio Tiberti 1 , Matteo Spaziani 1 , Gloria Riitano 2 , Giuseppe Lucania 2 , Antonella Anzuini 1 , Andrea Lenzi 1 , Daniele Gianfrilli 1 , Maurizio Sorice 2 , Antonio F Radicioni 1
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Current literature regarding systemic autoimmune diseases in X-chromosome aneuploidies is scarce and limited to case reports. Our aim was to evaluate the frequency of anti-nuclear (ANAs), extractable nuclear (ENA), anti-double-stranded DNA (dsDNAs), anti-smooth muscle (ASMAs) and anti-mitochondrial (AMAs) antibodies in a large cohort of adults with Klinefelter’s syndrome (KS, 47,XXY) and rare higher-grade sex chromosome aneuploidies (HGAs) for the first time. Sera from 138 X-chromosome aneuploid patients [124 adult patients with 47,XXY KS and 14 patients with HGA (six children, eight adults)] and 50 age-matched 46,XY controls were recruited from the Sapienza University of Rome (2007–17) and tested for ANAs, ENAs, anti-dsDNAs, ASMAs and AMAs. Non-organ-specific immunoreactivity was found to be significantly higher in patients with 47,XXY KS (14%) than in the controls (2%, p = 0.002). Among all the antibodies investigated, only ANAs were observed significantly more frequently in patients with 47,XXY KS (12.1%) than in the controls (2%, p = 0.004). No anti-dsDNA immunoreactivity was found. Stratifying by testosterone replacement therapy (TRT), non-organ-specific autoantibody frequencies were higher in TRT-naive (p = 0.01) and TRT-treated groups than in controls. No patients with HGA were found positive for the various autoantibodies. Non-organ-specific autoantibodies were significantly present in 47,XXY adult patients. Conversely, HGAs did not appear to be target of non-organ-specific immunoreactivity, suggesting that KS and HGAs should be considered as two distinct conditions. The classification and diagnosis of systemic autoimmune diseases is frequently difficult. To support a correct clinical evaluation of KS disease and to prevent eventual secondary irreversible immune-mediated damages, we highlight the importance of screening for non-organ-specific autoimmunity in Klinefelter’s syndrome.
中文翻译：
成人 47、XXY Klinefelter 患者的非器官特异性自身免疫和更高级别的 X 染色体非整倍体
目前关于 X 染色体非整倍体系统性自身免疫性疾病的文献很少，并且仅限于病例报告。我们的目的是评估大型队列中抗核 (ANA)、可提取核 (ENA)、抗双链 DNA (dsDNA)、抗平滑肌 (ASMA) 和抗线粒体 (AMA) 抗体的频率首次发现患有 Klinefelter 综合征（KS，47，XXY）和罕见的高级性染色体非整倍体（HGA）的成年人。来自罗马第一大学 (2007- 17) 并测试了 ANA、ENA、抗 dsDNA、ASMA 和 AMA。发现 47 例患者的非器官特异性免疫反应性显着升高，p = 0.002)。在所有研究的抗体中，只有 ANA 在 47,XXY KS 患者（12.1%）中的观察频率显着高于对照组（2%，p = 0.004）。未发现抗 dsDNA 免疫反应性。通过睾酮替代疗法 (TRT) 分层，非器官特异性自身抗体频率在 TRT-naive 中较高（p = 0.01) 和 TRT 治疗组比对照组。没有发现 HGA 患者的各种自身抗体呈阳性。非器官特异性自身抗体显着存在于 47 名 XXY 成年患者中。相反，HGA 似乎不是非器官特异性免疫反应的目标，这表明 KS 和 HGA 应被视为两种不同的条件。系统性自身免疫性疾病的分类和诊断通常很困难。为了支持对 KS 疾病的正确临床评估并防止最终的继发性不可逆免疫介导损伤，我们强调了在克氏综合征中筛查非器官特异性自身免疫的重要性。
更新日期：2021-05-12
中文翻译：
成人 47、XXY Klinefelter 患者的非器官特异性自身免疫和更高级别的 X 染色体非整倍体
目前关于 X 染色体非整倍体系统性自身免疫性疾病的文献很少，并且仅限于病例报告。我们的目的是评估大型队列中抗核 (ANA)、可提取核 (ENA)、抗双链 DNA (dsDNA)、抗平滑肌 (ASMA) 和抗线粒体 (AMA) 抗体的频率首次发现患有 Klinefelter 综合征（KS，47，XXY）和罕见的高级性染色体非整倍体（HGA）的成年人。来自罗马第一大学 (2007- 17) 并测试了 ANA、ENA、抗 dsDNA、ASMA 和 AMA。发现 47 例患者的非器官特异性免疫反应性显着升高，p = 0.002)。在所有研究的抗体中，只有 ANA 在 47,XXY KS 患者（12.1%）中的观察频率显着高于对照组（2%，p = 0.004）。未发现抗 dsDNA 免疫反应性。通过睾酮替代疗法 (TRT) 分层，非器官特异性自身抗体频率在 TRT-naive 中较高（p = 0.01) 和 TRT 治疗组比对照组。没有发现 HGA 患者的各种自身抗体呈阳性。非器官特异性自身抗体显着存在于 47 名 XXY 成年患者中。相反，HGA 似乎不是非器官特异性免疫反应的目标，这表明 KS 和 HGA 应被视为两种不同的条件。系统性自身免疫性疾病的分类和诊断通常很困难。为了支持对 KS 疾病的正确临床评估并防止最终的继发性不可逆免疫介导损伤，我们强调了在克氏综合征中筛查非器官特异性自身免疫的重要性。
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