ABSTRACT
Introduction: 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 dis-orders (PIDs). Timely diagnosis remains a challenge due to low clinical suspicion and poor edu-cation on the subject. It is estimated that between 70% and 90% of these pathologies remain underdiagnosed in our environment.Objective: The objective of this study is to characterize the demographic and clinical presen-tation of pediatric group patients with inborn errors of the immune system in a Colombian tertiary hospital.Methods: 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.Results: Three-hundred and six patients were included. The median age was 4 years (IQR 2.37.7 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 pop-ulation 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 cuta-neous 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 (AU)
