Lymphoproliferation and hyper-IgM as the first manifestation of activated phosphoinositide 3-kinase δ syndrome: A case report.

Activated phosphoinositide 3-kinase δ syndrome is an inborn error of immunity due to mutations within the genes responsible for encoding PI3Kδ subunits. This syndrome results in an excessive activation of the phosphoinositide 3-kinase signaling pathway. Gainof-function mutations in the gene PIK3R1 (encoding p85α, p55α, and p50α) lead to the development of the activated PI3K δ syndrome.

[Primera parte. Hombre de 45 años con neumonía grave, infección diseminada por citomegalovirus y agammaglobulinemia].

Se trata de un paciente de sexo masculino de 45 años con tos persistente de cuatro meses de duración, acompañada de fiebre y una significativa pérdida de peso. En la tomografía de tórax, se observó una neumonía idiopática y los estudios posteriores identificaron una carga viral positiva para citomegalovirus (CMV) en el lavado broncoalveolar. La biopsia transbronquial confirmó inclusiones basófilas intranucleares indicativas de la infección por CMV.

From phenotypic to molecular diagnosis: Insights from a clinical immunology service focused on inborn errors of immunity in Colombia.

Introduction: Inborn errors of immunity include a broad spectrum of genetic diseases, in which a specific gene mutation might alter the entire emphasis and approach for an individual patient.

Objective: To conduct a comprehensive analysis of the correlation between phenotypic and molecular diagnoses in patients with confirmed inborn errors of immunity at a tertiary hospital in Cali, Colombia.

Materials And Methods: We conducted a retrospective study in which we sequentially evaluated all available institutional medical records with a diagnosis of inborn errors of immunity.

Characterization of carbapenemase-producing from rectal swabs of patients in the intensive care units of a tertiary hospital in Cali-Colombia.

Background: Carbapenemase-producing (CPE) represents a significant threat to global health. This study aimed to characterize clinically and molecularly the CPE isolated from rectal swabs of patients in the intensive care units (ICUs) of a tertiary hospital in Cali, Colombia.

Methods: This was a cross-sectional observational study.