Autoinmunidad en pacientes con errores innatos de la inmunidad: serie de casos

IF 16.4 1区化学 Q1 CHEMISTRY, MULTIDISCIPLINARY

Accounts of Chemical Research Pub Date : 2024-08-01 DOI:10.1016/j.reuma.2024.03.001

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Abstract

Objective

To assess the prevalence of systemic and organ-specific autoimmunity among individuals with human inborn errors of immunity (IEI).

Methods

Retrospective study. We recorded demographic variables, type of immunodeficiency, and systemic and organ specific autoimmunity.

Results

We included 48 patients (54.1% men) with mean age of 32.1 years. The most common IEIs included combined immunodeficiency with syndromic features (31.2%) and predominantly antibody deficiency (20.1%). We observed autoimmunity in 15 patients (31.2%): 12 organ-specific autoimmunity and 5 systemic autoimmunity, not mutually exclusive groups. Organ-specific autoimmunity preceded the onset of IEI in 5 patients, was concurrent in one patient, and developed after the diagnosis of IEI in 6 cases. From the systemic autoimmunity group, we observed polyarteritis nodosa (n = 2), antiphospholipid syndrome (APS) (n = 2), and overlap of limited systemic sclerosis/APS/Sjögren's syndrome (n = 1), and in all cases, this occurred after the IEI diagnosis.

Conclusion

Our findings confirm the coexistence of autoimmunity and IEI. This overlap may be attributed to B and T cell disorders, as well as potential alterations in the microbiota in these patients.

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先天性免疫错误患者的自身免疫：病例系列

目的评估人类先天性免疫缺陷（IEI）患者全身和器官特异性自身免疫的发病率。我们记录了人口统计学变量、免疫缺陷类型以及全身和器官特异性自身免疫。结果我们纳入了 48 名患者（54.1% 为男性），平均年龄为 32.1 岁。最常见的 IEI 包括具有综合征特征的联合免疫缺陷（31.2%）和以抗体缺乏为主的免疫缺陷（20.1%）。我们在 15 名患者（31.2%）中观察到了自身免疫：12例为器官特异性自身免疫，5例为全身性自身免疫，这两组并不相互排斥。器官特异性自身免疫有 5 例在 IEI 发病前出现，1 例同时出现，6 例在 IEI 诊断后出现。在系统性自身免疫组中，我们观察到结节性多动脉炎（2 例）、抗磷脂综合征（2 例）和局限性系统性硬化症/抗磷脂综合征/舍格伦综合征重叠（1 例），所有病例均在 IEI 诊断后发病。我们的研究结果证实了自身免疫与 IEI 的共存，这种重叠可能是由于 B 细胞和 T 细胞紊乱以及这些患者体内微生物群的潜在改变造成的。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Accounts of Chemical Research 化学-化学综合

CiteScore

31.40

自引率

1.10%

发文量

312

审稿时长

2 months

期刊介绍： Accounts of Chemical Research presents short, concise and critical articles offering easy-to-read overviews of basic research and applications in all areas of chemistry and biochemistry. These short reviews focus on research from the author’s own laboratory and are designed to teach the reader about a research project. In addition, Accounts of Chemical Research publishes commentaries that give an informed opinion on a current research problem. Special Issues online are devoted to a single topic of unusual activity and significance. Accounts of Chemical Research replaces the traditional article abstract with an article "Conspectus." These entries synopsize the research affording the reader a closer look at the content and significance of an article. Through this provision of a more detailed description of the article contents, the Conspectus enhances the article's discoverability by search engines and the exposure for the research.