Demographic and clinical characterization of pediatric group patients with inborn errors of the immune system in a Colombian tertiary hospital

• Manuela Olaya ^[2] ; Daniela Cleves ^[1] ; Tania Guzmán ^[1] ; Laura Torres-Canchala ^[3] ; Harry Pachajoa ^[1] ; Diego Medina-Valencia ^[4] ; Jaime Patiño ^[1] ; José David Gómez ^[1] ; Paola Pérez ^[1]
  1. [1] Universidad Icesi

     Universidad Icesi

     Colombia

     
  2. [2] Pediatric Allegology Service, Fundación Valle del Lili, Cali, Colombia
  3. [3] Centro de Investigaciones Clínicas, Fundación Valle del Lili, Cali, Colombia
  4. [4] Clinical Genetic Service, Fundación Valle del Lili. Cali, Colombia

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• Localización: Allergologia et immunopathologia: International journal for clinical and investigate allergology and clinical immunology, ISSN-e 1578-1267, ISSN 0301-0546, Vol. 50, Nº. 4, 2022, págs. 17-22
• Idioma: inglés
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  • ntroduction: 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 2.3–7.7 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 pop-ulation was complement deficiency. Of the warning signs stipulated for these pathologies,he 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.Conclusions: 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 morbid-ity 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.