Caracterización clínica y epidemiológica de los pacientes pediátricos con diagnóstico de inmunodeficiencia primaria atendidos en Hospital de Niños Dr. Roberto Gilbert Elizalde en el período 2017-2022.

Abstract

The alterations of the immune system can be primary or secondary, being the primary immunodeficiencies (PID) intrinsic defects in one or more proteins of the cellular or humoral immune system, generating a wide and heterogeneous group of hereditary pathologies, mostly autosomal recessive, with clinical manifestations present even from birth, including recurrence and abnormal susceptibility to infections, autoimmunity, autoinflammatory diseases, allergy, bone marrow failure and/or malignancy. According to the latest review of the 2022 Committee of experts of the International Union of Immunological Societies, 485 inborn errors of immunity have been described, having a low prevalence, but their severity and high mortality risk require that its clinical approach be based on diagnostic instruments that allow its early detection. Currently, the diagnosis has been optimized according to the clinical knowledge of the molecular and cellular defects of this group of diseases, its suspicion being necessary, which would lead to a timely diagnosis and effective treatment in some cases.