Abstract Objectives: The aim of the report is to describe the main immunodeficiencies with syndromic characteristics according to the new classification of Inborn Errors of Immunity. Data source: The data search was centered on the PubMed platform on review studies, meta-analyses, systematic reviews, c...
Abstract Objectives: To provide an overview of drug treatment, transplantation, and gene therapy for patients with primary immunodeficiencies. Source of data: Non-systematic review of the literature in the English language carried out at PubMed. Synthesis of data: The treatment of patients with primar...
Abstract Objectives: To rescue medical genetics concepts that are necessary to understand the advances in the genetic-molecular characterization of primary immunodeficiencies, to help in the understanding and adequate interpretation of their results. Source of data: Non-systematic literature review, se...
SARS-CoV-2 infection in the people has been characterized by great variability in the clinical
manifestations, ranging from an asymptomatic infection in some individuals to a fatal disease
in others. Recently, the importance of human genetics in determining clinical response has been high...
El síndrome WHIM es una inmunodeficiencia primaria de herencia autosómica dominante, debida a mutaciones en el gen CXCR4, que se caracteriza por verrugas cutáneo-mucosas, hipogammaglobulinemia, infecciones bacterianas recurrentes y mielocatesis. El tratamiento se basa en el uso de antibióticos profil...
Diferentes inmunodeficiencias primarias se caracterizan por niveles elevados de IgE e infecciones cutáneas de origen viral. Describimos el caso de un niño de 2 años y 8 meses de edad, con inmunodeficiencia combinada, dermatitis y molusco contagioso diseminado. El paciente presentaba niveles aumentados...
En las últimas décadas, se han incorporado nuevos y trascendentes conceptos para el tratamiento avanzado del paciente en shock séptico. Se debe considerar el uso de terapia inmune en grupos seleccionados de pacientes. Las terapias de sustitución renal de carácter continuo son bien toleradas y su emp...
