Non-cystic fibrosis bronchiectasis in pediatrics: A cohort profile of patients with inborn errors of immunity at a referral center in Cali, Colombia

Abstract

Introduction. Inborn errors of immunity are frequently associated with bronchiectasis. The diagnostic performance of these inborn errors has improved because the association of some of these entities with progressive airway damage is better known. This knowledge has allowed recognition and appropriate intervention reducing deterioration of the pulmonary function and improving quality of life.
Objective. To describe a group of patients with bronchiectasis not related to cystic fibrosis who were diagnosed with inborn errors of immunity and have been studied in an immunology reference center in Colombia.
Materials and methods. We conducted an observational, descriptive, and retrospective study with participating patients under 18 years, diagnosed with inborn errors of immunity and non-cystic fibrosis bronchiectasis, between December 2013 and December 2023 at the Fundación Valle del Lili in Cali, Colombia.
Results. Seventeen patients were diagnosed with non-cystic fibrosis bronchiectasis and inborn errors of immunity. Their mean age was nine years. The lower pulmonary lobe was the most frequently affected segment, and in most cases, unilaterally. The most prevalent alteration was predominantly antibody inmunodeficiency, followed by combined immunodeficiencies associated with syndromes. Thirteen patients had humoral immunity compromise, while 4 exhibited humoral and cellular immunity alterations. Additionally, 12 patients presented genetic mutations related to their phenotype. Thirteen patients, underwent supplementation with intravenous immunoglobulin, and 3 died.
Conclusion. The inborn errors of immunity most frequently associated with noncystic fibrosis bronchiectasis, were predominantly antibody deficiency and combined
immunodeficiencies with syndromic features.