Nasser Nayara Maria Furquim, Pastorino Antonio Carlos, de Moura Thais Costa Lima, Morgenstern Beni, Dorna Mayra de Barros, Castro Ana Paula Beltran Moschione
Faculdade de Medicina, Universidade de São Paulo (HC-FMUSP), Instituto da Criança e do Adolescente, Departamento de Pediatria, Divisão de Alergia e Imunologia, Hospital das Clínicas, São Paulo, SP, Brazil.
Faculdade de Medicina, Universidade de São Paulo (HC-FMUSP), Instituto da Criança e do Adolescente, Departamento de Pediatria, Divisão de Alergia e Imunologia, Hospital das Clínicas, São Paulo, SP, Brazil.
J Pediatr (Rio J). 2025 Jul-Aug;101(4):569-575. doi: 10.1016/j.jped.2025.03.002. Epub 2025 Apr 11.
Patients with selective IgA deficiency (SIgAD) present elevated morbidity associated with infections, allergic conditions, autoimmune disorders, and neoplasms. This study aims to characterize clinical manifestations, disease progression, and laboratory findings in a cohort of pediatric patients with SIgAD.
The study included patients with confirmed SIgAD and a clinical history of at least 5 years. Data encompassed clinical manifestations of the disease, patient outcomes, and laboratory findings, including IgA, IgG, IgM, IgE levels and complete blood count.
A total of 51 patients (1.2:1 female-to-male ratio) were included, with a median age at diagnosis of 6 years. Infections were the most common clinical manifestations of SIgAD (98 %), with pneumonia being the most frequent (94 %), followed by sinusitis (70 %). Additionally, 47 patients (92.1 %) exhibited allergic manifestations, including rhinitis or asthma. Autoimmune conditions were identified in 10 patients, predominantly thyroiditis (60 %), while neoplasms were observed in 3 patients. The sequence of disease onset revealed a natural progression, beginning with infectious diseases, followed significantly by allergic and autoimmune conditions. Elevated immunoglobulin levels (IgM or IgG) were observed in 25 patients, with hypergammaglobulinemia significantly associated with autoimmune conditions or the presence of autoantibodies (p < 0.05).
SIgAD is a clinically significant condition. Understanding its natural history deepens our knowledge of the disease and helps early detection and diagnosis of comorbidities that may arise at various stages of a patient's life. Monitoring other immunoglobulin levels may offer potential biomarkers for predicting autoimmune conditions; however, larger studies are needed to validate these biomarkers.
选择性IgA缺乏症（SIgAD）患者的感染、过敏、自身免疫性疾病和肿瘤发病率升高。本研究旨在描述一组小儿SIgAD患者的临床表现、疾病进展和实验室检查结果。
该研究纳入确诊为SIgAD且有至少5年临床病史的患者。数据包括疾病的临床表现、患者预后和实验室检查结果，包括IgA、IgG、IgM、IgE水平和全血细胞计数。
共纳入51例患者（女性与男性比例为1.2:1），诊断时的中位年龄为6岁。感染是SIgAD最常见的临床表现（98%），其中肺炎最为常见（94%），其次是鼻窦炎（70%）。此外，47例患者（92.1%）有过敏表现，包括鼻炎或哮喘。10例患者有自身免疫性疾病，主要是甲状腺炎（60%），3例患者有肿瘤。疾病发作顺序显示出自然进展，始于传染病，随后显著出现过敏和自身免疫性疾病。25例患者免疫球蛋白水平升高（IgM或IgG），高球蛋白血症与自身免疫性疾病或自身抗体的存在显著相关（p<0.05）。
SIgAD是一种具有临床意义的疾病。了解其自然病史可加深我们对该疾病的认识，并有助于早期发现和诊断患者生命不同阶段可能出现的合并症。监测其他免疫球蛋白水平可能为预测自身免疫性疾病提供潜在的生物标志物；然而，需要更大规模的研究来验证这些生物标志物。
