Abstract：
OBJECTIVE: Inborn errors of immunity (IEI) are a heterogeneous group of diseases with variable clinical phenotypes. This study was conducted to describe the epidemiology, clinical presentations, treatment, and outcome of IEI in Jordanian children.
METHODS: A retrospective data analysis was conducted for children under 15 years diagnosed with IEI from the pediatric Allergy, Immunology, and Rheumatology Division-based registry at Queen Rania Children\'s Hospital, Amman, Jordan, between 2010 and 2022.
RESULTS: A total of 467 patients, 263 (56.3%) males and 204 (43.7%) females, were diagnosed with IEI. The mean age at symptom onset was 18 months (1 week to 144 months), a positive family history of IEI was reported in 43.5%, and the consanguinity rate was 47.9%. The most common IEI category was immunodeficiencies affecting cellular and humoral immunity at 33.2%, followed by predominantly antibody deficiencies at 16.9%. The overall median diagnostic delay (range) was 6 (0-135) months; patients with a positive family history of IEI had a statistically significant shorter diagnostic delay. Pulmonary and gastrointestinal clinical features were the most common at 55.2% and 45.6%, respectively. The overall mortality was 33.2%; the highest rate was reported in severe combined immunodeficiency at 56.2%.
CONCLUSIONS: The high minimal estimated IEI prevalence at 16.2/100,000 Jordanian children compared to the regional and worldwide data, with the diversities in clinical presentation and distribution of IEI categories in our cohort point to unique features of IEI in Jordanian children, call for national registry establishment, regional and international collaborative networks.
METHODS: A retrospective data analysis was conducted for children under 15 years diagnosed with IEI from the pediatric Allergy, Immunology, and Rheumatology Division-based registry at Queen Rania Children\'s Hospital, Amman, Jordan, between 2010 and 2022.
RESULTS: A total of 467 patients, 263 (56.3%) males and 204 (43.7%) females, were diagnosed with IEI. The mean age at symptom onset was 18 months (1 week to 144 months), a positive family history of IEI was reported in 43.5%, and the consanguinity rate was 47.9%. The most common IEI category was immunodeficiencies affecting cellular and humoral immunity at 33.2%, followed by predominantly antibody deficiencies at 16.9%. The overall median diagnostic delay (range) was 6 (0-135) months; patients with a positive family history of IEI had a statistically significant shorter diagnostic delay. Pulmonary and gastrointestinal clinical features were the most common at 55.2% and 45.6%, respectively. The overall mortality was 33.2%; the highest rate was reported in severe combined immunodeficiency at 56.2%.
CONCLUSIONS: The high minimal estimated IEI prevalence at 16.2/100,000 Jordanian children compared to the regional and worldwide data, with the diversities in clinical presentation and distribution of IEI categories in our cohort point to unique features of IEI in Jordanian children, call for national registry establishment, regional and international collaborative networks.
摘要：
目的：先天性免疫错误（IEI）是一组具有可变临床表型的异质性疾病。这项研究是为了描述流行病学，临床表现,治疗,以及约旦儿童IEI的结果。
方法：对15岁以下儿童进行回顾性数据分析，免疫学,和Rania女王儿童医院的风湿病科登记处，安曼,乔丹,2010年至2022年。
结果：共467例患者，263名（56.3%）男性和204名（43.7%）女性，被诊断为IEI。症状发作的平均年龄为18个月（1周至144个月），IEI家族史阳性的占43.5%，血缘率为47.9%。最常见的IEI类别是影响细胞和体液免疫的免疫缺陷，占33.2％，其次是抗体缺乏，占16.9%。总体中位诊断延迟（范围）为6（0-135）个月；IEI家族史阳性的患者的诊断延迟在统计学上显着较短。肺部和胃肠道临床特征最常见，分别为55.2％和45.6％，分别。总死亡率为33.2％；据报道，严重联合免疫缺陷发生率最高，为56.2％。
结论：与区域和全球数据相比，16.2/100,000约旦儿童的IEI最低估计患病率较高，我们队列中IEI类别的临床表现和分布的多样性表明，约旦儿童IEI的独特特征，呼吁建立国家登记册，区域和国际合作网络。
方法：对15岁以下儿童进行回顾性数据分析，免疫学,和Rania女王儿童医院的风湿病科登记处，安曼,乔丹,2010年至2022年。
结果：共467例患者，263名（56.3%）男性和204名（43.7%）女性，被诊断为IEI。症状发作的平均年龄为18个月（1周至144个月），IEI家族史阳性的占43.5%，血缘率为47.9%。最常见的IEI类别是影响细胞和体液免疫的免疫缺陷，占33.2％，其次是抗体缺乏，占16.9%。总体中位诊断延迟（范围）为6（0-135）个月；IEI家族史阳性的患者的诊断延迟在统计学上显着较短。肺部和胃肠道临床特征最常见，分别为55.2％和45.6％，分别。总死亡率为33.2％；据报道，严重联合免疫缺陷发生率最高，为56.2％。
结论：与区域和全球数据相比，16.2/100,000约旦儿童的IEI最低估计患病率较高，我们队列中IEI类别的临床表现和分布的多样性表明，约旦儿童IEI的独特特征，呼吁建立国家登记册，区域和国际合作网络。
