Fahl Kristine, Silva Clovis A, Pastorino Antonio C, Carneiro-Sampaio Magda, Jacob Cristina M A
Unidade de Alergia Pediátrica e Imunologia, Departamento de Pediatria, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brasil.
Unidade de Reumatologia Pediátrica, Departamento de Pediatria, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brasil; Divisão de Reumatologia, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brasil.
Rev Bras Reumatol. 2015 May-Jun;55(3):197-202. doi: 10.1016/j.rbr.2014.10.003. Epub 2014 Nov 7.
Clinical manifestations of Immunoglobulin A Deficiency (IgAD) include recurrent infections, atopy and autoimmune diseases. However, to our knowledge, the concomitant evaluations of autoimmune diseases and autoantibodies in a cohort of IgAD patients with current age > 10 years-old and their relatives have not been assessed.
To evaluate autoimmune diseases and the presence of autoantibodies in IgAD patients and their first-degree relatives.
A cross-sectional study was performed in 34 IgAD patients (current age > 10 years-old) and their first-degree relatives. All of them were followed at a tertiary Brazilian primary immunodeficiency center: 27 children/adolescents and 7 of their first-degree relatives with a late diagnosis of IgAD. Autoimmune diseases and autoantibodies (antinuclear antibodies, rheumatoid factor, and anti-thyroglobulin, anti-thyroperoxidase and IgA class anti-endomysial antibodies) were also assessed.
Autoimmune diseases (n=14) and/or autoantibodies (n=10, four of them with isolated autoantibodies) were observed in 18/34 (53%) of the patients and their relatives. The most common autoimmune diseases found were thyroiditis (18%), chronic arthritis (12%) and celiac disease (6%). The most frequent autoantibodies were antinuclear antibodies (2%), anti-thyroglobulin and/or anti-thyroperoxidase (24%). No significant differences were observed in the female gender, age at diagnosis and current age in IgAD patients with and without autoimmune diseases and/or presence of autoantibodies (p>0.05). The frequencies of primary immunodeficiency's in family, autoimmunity in family, atopy and recurrent infections were similar in both groups (p>0.05).
Autoimmune diseases and autoantibodies were observed in IgAD patients during follow-up, reinforcing the necessity of a rigorous and continuous follow-up during adolescence and adulthood.
免疫球蛋白A缺乏症（IgAD）的临床表现包括反复感染、特应性疾病和自身免疫性疾病。然而，据我们所知，尚未对一组年龄大于10岁的IgAD患者及其亲属中的自身免疫性疾病和自身抗体进行综合评估。
评估IgAD患者及其一级亲属中的自身免疫性疾病和自身抗体情况。
对34例年龄大于10岁的IgAD患者及其一级亲属进行了一项横断面研究。他们均在巴西一家三级原发性免疫缺陷中心接受随访：27名儿童/青少年及其7名较晚诊断为IgAD的一级亲属。同时评估了自身免疫性疾病和自身抗体（抗核抗体、类风湿因子、抗甲状腺球蛋白、抗甲状腺过氧化物酶和IgA类抗肌内膜抗体）。
在18/34（53%）的患者及其亲属中观察到自身免疫性疾病（n = 14）和/或自身抗体（n = 10，其中4例为孤立性自身抗体）。发现的最常见自身免疫性疾病是甲状腺炎（18%）、慢性关节炎（12%）和乳糜泻（6%）。最常见的自身抗体是抗核抗体（2%）、抗甲状腺球蛋白和/或抗甲状腺过氧化物酶（24%）。在有无自身免疫性疾病和/或自身抗体的IgAD患者中，女性性别、诊断年龄和当前年龄方面未观察到显著差异（p>0.05）。两组中家族性原发性免疫缺陷、家族性自身免疫、特应性疾病和反复感染的发生率相似（p>0.05）。
在随访期间，IgAD患者中观察到自身免疫性疾病和自身抗体，这进一步强调了在青少年和成年期进行严格持续随访的必要性。
