ABSTRACT

Background: Autoimmune disorders are reported as presenting signs in patients with immunoglobulin A (IgA) deficiency. Herein, we aim to evaluate serum IgA among patients with autoimmune polyendocrinopathy.

Methods: Patients with two or more autoimmune endocrinopathies were selected and the serum IgA levels were measured. Patients with an isolated low serum IgA (<7 mg/dL) after exclusion of other causes of hypogammaglobulinemia were considered as selective IgA deficiency (SIgAD), while partial IgA deficiency (PIgAD) was defined as IgA levels below lower limits of IgA normal range for age but higher than 7 mg/dL.

Results: Fifty-three patients (19 [35.8%] male and 34 [64.2%] female) with autoimmune polyendocrinopathy enrolled in the study. Parental consanguinity and positive family history of autoimmunity were reported in 38.0% and 52.9% of patients, respectively. Overall, IgA deficiency was observed in 5 (9.4%) patients including PIgAD in 3 (5.7%) and SIgAD in 2 (3.8%) patients. Among IgA deficient patients, the first autoimmune disorder was developed at earlier ages (p = .002), and the prevalence of infection (p = .002), lymphoproliferation (p = .021), and overlap between insulin-dependent diabetes mellitus and autoimmune thyroiditis (p = .032) were significantly higher than patients with normal IgA. Also, the number of autoimmune comorbidities was closely correlated with the occurrence of IgA deficiency (p = .008).

Conclusion: The prevalence of IgA deficiency in patients with autoimmune polyendocrinopathy is higher than that in the general population. In these patients, immunologic workup may lead to early diagnosis of inborn error of immunity, which can positively impact the evolution of complications and even management of the autoimmune disorders.

摘要

背景：据报道，自身免疫性疾病在免疫球蛋白A（IgA）缺乏症患者中表现出体征。在本文中，我们旨在评估自身免疫性多内分泌病患者的血清IgA。

方法：选择患有两种或多种自身免疫性内分泌病的患者，并测定其血清IgA水平。排除其他原因的低水平球蛋白血症后，血清IgA偏低（<7 mg / dL）的患者被视为选择性IgA缺乏症（SIgAD），而部分IgA缺乏症（PIgAD）被定义为低于IgA正常范围下限的IgA水平年龄但高于7 mg / dL。

结果：本研究纳入了53例自身免疫性多发性内分泌病患者（男19 [35.8％]，女34 [64.2％]）。据报道，父母亲血友病和自身免疫阳性家族史的患者分别为38.0％和52.9％。总体而言，在5例（9.4％）患者中观察到IgA缺乏症，其中3例（5.7％）的PIgAD和2例（3.8％）的SIgAD。在IgA缺乏症患者中，首个自身免疫性疾病发生于较早年龄（p = .002），感染发生率（p = .002），淋巴增殖（p = .021）以及胰岛素依赖型糖尿病和糖尿病之间存在重叠自身免疫性甲状腺炎（p= .032）明显高于IgA正常的患者。同样，自身免疫性合并症的数量也与IgA缺乏症的发生密切相关（p = 0.008）。

结论：自身免疫性多发性内分泌病患者中IgA缺乏症的患病率高于一般人群。在这些患者中，进行免疫学检查可能会导致早期诊断出先天性免疫错误，从而可以积极影响并发症的进展，甚至影响自身免疫性疾病的治疗。