Abstract：
UNASSIGNED: In recent decades, there has been a growing increase in the diagnosis of patients with inborn errors of the immune system, formerly known as primary immunodeficiency disorders (PIDs). Timely diagnosis remains a challenge due to low clinical suspicion and poor education on the subject. It is estimated that between 70% and 90% of these pathologies remain underdiagnosed in our environment.
UNASSIGNED: The objective of this study is to characterize the demographic and clinical presentation of pediatric group patients with inborn errors of the immune system in a Colombian tertiary hospital.
UNASSIGNED: Retrospective descriptive study of 306 patients with a diagnosis of innate errors of the immune system who consulted the PID clinic between 2011 and 2018 in a high-complexity institution in Cali, Colombia.
UNASSIGNED: Three-hundred and six patients were included. The median age was 4 years (IQR 2.3-7.7 years), and 59.5% of the patients were male. According to the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency classification for inborn errors of the immune system, the most common group was antibody deficiency in 74.8% (n˂229), especially in the age group between 1 and 5 years. The least frequent in our population was complement deficiency. Of the warning signs stipulated for these pathologies, the most frequent were the (1) need for intravenous antibiotics (32%), (2) difficulty growing (15.7%), (3) four or more episodes of ear infection (10.8%), and (4) abscesses in organs or cutaneous abscesses (12.7%). No patient reported two or more episodes of pneumonia or sinusitis, and only 5.8% of the patients received a bone marrow transplant.
UNASSIGNED: Innate errors of the immune system require an early diagnosis with follow-up from an early age to ensure adequate management and follow-up in order to reduce morbidity and mortality. It is imperative to sensitize the medical population about the existence of these pathologies so that early intervention can be carried out, which improves the quality of life of patients and their families.
UNASSIGNED: The objective of this study is to characterize the demographic and clinical presentation of pediatric group patients with inborn errors of the immune system in a Colombian tertiary hospital.
UNASSIGNED: Retrospective descriptive study of 306 patients with a diagnosis of innate errors of the immune system who consulted the PID clinic between 2011 and 2018 in a high-complexity institution in Cali, Colombia.
UNASSIGNED: Three-hundred and six patients were included. The median age was 4 years (IQR 2.3-7.7 years), and 59.5% of the patients were male. According to the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency classification for inborn errors of the immune system, the most common group was antibody deficiency in 74.8% (n˂229), especially in the age group between 1 and 5 years. The least frequent in our population was complement deficiency. Of the warning signs stipulated for these pathologies, the most frequent were the (1) need for intravenous antibiotics (32%), (2) difficulty growing (15.7%), (3) four or more episodes of ear infection (10.8%), and (4) abscesses in organs or cutaneous abscesses (12.7%). No patient reported two or more episodes of pneumonia or sinusitis, and only 5.8% of the patients received a bone marrow transplant.
UNASSIGNED: Innate errors of the immune system require an early diagnosis with follow-up from an early age to ensure adequate management and follow-up in order to reduce morbidity and mortality. It is imperative to sensitize the medical population about the existence of these pathologies so that early intervention can be carried out, which improves the quality of life of patients and their families.
摘要：
■近几十年来，免疫系统先天性错误患者的诊断越来越多，以前称为原发性免疫缺陷疾病（PID）。及时诊断仍然是一个挑战，由于低临床怀疑和对该主题的教育不足。据估计，在我们的环境中，这些疾病中有70％至90％仍未被诊断。
■本研究的目的是描述哥伦比亚三级医院中免疫系统先天性错误的儿科患者的人口统计学和临床表现。
■回顾性描述性研究了306名诊断为免疫系统先天性错误的患者，他们在2011年至2018年期间在卡利的一个高度复杂的机构中咨询了PID诊所，哥伦比亚。
■纳入了三百六位患者。中位年龄为4岁（IQR2.3-7.7岁），59.5%的患者为男性。根据国际免疫学会联盟免疫系统先天性错误原发性免疫缺陷分类专家委员会的说法，最常见的是74.8%的抗体缺乏(n=229)，特别是在1至5岁的年龄组。我们人口中最不常见的是补体缺乏。在为这些病症规定的警告标志中，最常见的是(1)需要静脉注射抗生素(32%)，（2）难度增长（15.7%），（3）4次或更多次耳部感染（10.8%），（4）器官脓肿或皮肤脓肿（12.7％）。没有患者报告两次或两次以上的肺炎或鼻窦炎发作，只有5.8%的患者接受了骨髓移植。
■免疫系统的先天错误需要早期诊断并从早期开始随访，以确保适当的管理和随访，以降低发病率和死亡率。必须使医疗人群对这些病症的存在敏感，以便可以进行早期干预，提高了患者及其家属的生活质量。
■本研究的目的是描述哥伦比亚三级医院中免疫系统先天性错误的儿科患者的人口统计学和临床表现。
■回顾性描述性研究了306名诊断为免疫系统先天性错误的患者，他们在2011年至2018年期间在卡利的一个高度复杂的机构中咨询了PID诊所，哥伦比亚。
■纳入了三百六位患者。中位年龄为4岁（IQR2.3-7.7岁），59.5%的患者为男性。根据国际免疫学会联盟免疫系统先天性错误原发性免疫缺陷分类专家委员会的说法，最常见的是74.8%的抗体缺乏(n=229)，特别是在1至5岁的年龄组。我们人口中最不常见的是补体缺乏。在为这些病症规定的警告标志中，最常见的是(1)需要静脉注射抗生素(32%)，（2）难度增长（15.7%），（3）4次或更多次耳部感染（10.8%），（4）器官脓肿或皮肤脓肿（12.7％）。没有患者报告两次或两次以上的肺炎或鼻窦炎发作，只有5.8%的患者接受了骨髓移植。
■免疫系统的先天错误需要早期诊断并从早期开始随访，以确保适当的管理和随访，以降低发病率和死亡率。必须使医疗人群对这些病症的存在敏感，以便可以进行早期干预，提高了患者及其家属的生活质量。
