Division of Adult Immunology and Allergy, Department of Chest Diseases, Pendik Training and Research Hospital, Marmara University, Istanbul, Turkey.
Division of Pediatric Allergy and Immunology, School of Medicine, Marmara University, Istanbul, Turkey.
Int Arch Allergy Immunol. 2024;185(11):1123-1135. doi: 10.1159/000540538. Epub 2024 Sep 3.
Inborn errors of immunity (IEIs) are rare genetic disorders primarily identified in children due to their significant effects on immune system functionality. However, an increasing number of IEI cases are being diagnosed in adults, attributed to delayed presentation or advancements in diagnostic capabilities. This study explores the clinical and immunologic distinctions between IEIs diagnosed in adulthood versus childhood, shedding light on their differential presentations, the impact of diagnostic delays, and treatment outcomes.
This study focused on 122 adult patients with IEI above 17 years old, diagnosed in adulthood or childhood. We collected comprehensive data on demographics, clinical presentations, genetic mutations, and therapeutic interventions.
The study revealed that 72.9% of participants were diagnosed in adulthood, facing a median diagnostic delay of 96 months. Diagnostic delays were longer in adults (132 months vs. 24 months) than in children. The most common clinical manifestations at onset were recurrent infections (46.7%) and autoimmunity (18%). Predominantly antibody deficiency was the most frequently diagnosed immunodeficiency (54.9%), followed by immunodysregulation at a rate of 26.2%. A higher incidence of immune thrombocytopenia or other complications, such as hepatomegaly and enteropathy, was observed in adult-diagnosed patients with IEI. Malignancies were more prevalent in patients with adult-onset IEI compared to those with childhood-onset (18.1% vs. 5.2%). Overall, 15 different malignancies were recorded in 13 patients (10.6%), including lymphomas and cancers of the stomach, thymus, skin, breast, and colon.
The findings highlight a considerable diagnostic delay in recognizing IEI, especially in adults, and illustrate distinct differences in disease manifestation and progression between adult-onset and delayed-diagnosis groups.
先天性免疫缺陷（IEI）是一种罕见的遗传性疾病，主要发生在儿童身上，因为它们对免疫系统功能有重大影响。然而，由于诊断能力的提高和出现时间的延迟，越来越多的 IEI 病例在成年人中被诊断出来。本研究探讨了在成年人和儿童中诊断出的 IEI 在临床和免疫方面的区别，阐明了它们不同的表现、诊断延迟的影响以及治疗结果。
本研究专注于 122 名年龄在 17 岁以上的成年 IEI 患者，他们是在成年期或儿童期被诊断出来的。我们收集了全面的人口统计学、临床表现、基因突变和治疗干预的数据。
研究显示，72.9%的参与者是在成年期被诊断出来的，中位诊断延迟为 96 个月。成年人的诊断延迟时间更长（132 个月比 24 个月）。发病时最常见的临床表现是反复感染（46.7%）和自身免疫（18%）。最常见的免疫缺陷是抗体缺陷（54.9%），其次是免疫失调（26.2%）。在 IEI 成年诊断患者中，观察到更高的免疫性血小板减少症或其他并发症的发生率，如肝肿大和肠病。与儿童发病的 IEI 患者相比，成年发病的 IEI 患者恶性肿瘤的发病率更高（18.1%比 5.2%）。总的来说，在 13 名患者（10.6%）中记录了 15 种不同的恶性肿瘤，包括淋巴瘤和胃、胸腺、皮肤、乳腺和结肠的癌症。
这些发现突出了在识别 IEI 方面存在相当大的诊断延迟，特别是在成年人中，并说明了成年发病和延迟诊断组之间在疾病表现和进展方面的显著差异。
