Antibody deficiencies in pediatric age in Pinar del Río
Keywords:
GAMMAGLOBULINAS; CROMOSOMA X; ENFERMEDADES DE INMUNODEFICIENCIA PRIMARIA; ENFERMEDADES DEL SISTEMA INMUNE., GAMMA-GLOBULINS; X CHROMOSOME; PRIMARY IMMUNODEFICIENCY DISEASES; IMMUNE SYSTEM DISEASES., GAMA-GLOBULINAS; CROMOSSOMO X; DOENÇAS DA IMUNODEFICIÊNCIA PRIMÁRIA; DOENÇAS DO SISTEMA IMUNITÁRIO.Abstract
Introduction: antibody deficiency is an inborn error of immunity caused by impaired maturation or function of lymphocytes in the blood. Objective: to describe the clinical characteristics, mortality, and inheritance pattern of antibody deficiency in pediatric patients from Pinar del Río. Methods: an observational, cross-sectional, and descriptive study was conducted involving 43 patients diagnosed with antibody deficiency and treated at the immunology service of the “Pepe Portilla” Provincial Pediatric Hospital in Pinar del Río between 1994 and 2022. Each patient underwent clinical history documentation and was evaluated both clinically and through laboratory tests. Patients were classified according to their etiological origin. Results: the three most frequently identified etiologies were selective IgA deficiency (37 patients), followed by common variable immunodeficiency and X-linked agammaglobulinemia, with three cases each. Males accounted for 58 % of the cases. The inheritance pattern could only be identified in cases of X-linked agammaglobulinemia, also known as Bruton’s disease. Conclusions: bacterial and viral infections predominated among antibody deficiencies, and severity depended on the affected antibody isotype. Autoimmune disorders emerged as complications in these patients. Warning signs were present in severe antibody deficiencies. The inheritance pattern varied according to the defect’s etiology, with sporadic cases predominating. The highest mortality rate corresponded to cases of X-linked agammaglobulinemia.
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