Abstract：
Ataxia-telangiectasia (AT) is a rare genetic disorder leading to neurological defects, telangiectasias, and immunodeficiency. We aimed to study the clinical and immunological features of Latin American patients with AT and analyze factors associated with mortality. Referral centers from 9 Latin American countries participated in this retrospective cohort study, and 218 patients were included. Median (IQR) ages at symptom onset and diagnosis were 1.0 (1.0-2.0) and 5.0 (3.0-8.0) years, respectively. Most patients presented recurrent airway infections, which was significantly associated with IgA deficiency. IgA deficiency was observed in 60.8% of patients and IgG deficiency in 28.6%. T- and B-lymphopenias were also present in most cases. Mean survival was 24.2 years, and Kaplan-Meier 20-year-survival rate was 52.6%, with higher mortality associated with female gender and low IgG levels. These findings suggest that immunologic status should be investigated in all patients with AT.
摘要：
共济失调毛细血管扩张症（AT）是一种罕见的导致神经系统缺陷的遗传疾病，毛细血管扩张,和免疫缺陷。我们旨在研究拉丁美洲AT患者的临床和免疫学特征，并分析与死亡率相关的因素。来自9个拉丁美洲国家的转诊中心参与了这项回顾性队列研究，包括218例患者。症状发作和诊断时的中位年龄（IQR）为1.0（1.0-2.0）和5.0（3.0-8.0）岁，分别。大多数患者出现反复气道感染，与IgA缺乏显著相关。在60.8％的患者中观察到IgA缺乏，在28.6％的患者中观察到IgG缺乏。在大多数情况下也存在T和B淋巴细胞减少。平均生存期为24.2年,Kaplan-Meier的20年生存率为52.6%,与女性和低IgG水平相关的较高死亡率。这些发现表明，应调查所有AT患者的免疫状态。
