• Catalina Martínez-Jaramillo, Sebastian Gutierrez-Hincapie, Julio César Orrego Arango, Gloria María Vásquez-Duque, Ruth María Erazo-Garnica, Jose Luis Franco, and Claudia Milena Trujillo-Vargas.
• Universidad de Antioquia UdeA, Facultad de Medicina, Grupo de Inmunodeficiencias Primarias, Medellin, Colombia.
• Colomb Medica. 2019 Sep 30; 50 (3): 176-191.

BackgroundLPS-responsive beige -like anchor protein (LRBA) deficiency is a primary immunodeficiency disease caused by loss of LRBA protein expression, due to biallelic mutations in LRBA gene. LRBA deficiency patients exhibit a clinically heterogeneous syndrome. The main clinical complication of LRBA deficiency is immune dysregulation. Furthermore, hypogammaglobulinemia is found in more than half of patients with LRBA-deficiency. To date, no patients with this condition have been reported in Colombia.ObjectiveTo evaluate the expression of the LRBA protein in patients from Colombia with clinical phenotype associated to LRBA-deficiency.MethodsIn the present study the LRBA-expression in patients from Colombia with clinical phenotype associated to LRBA-deficiency was evaluated. After then, the clinical, the immunological characteristics and the possible genetic variants in LRBA or other genes associated with the immune system in patients that exhibit decrease protein expression was evaluated.ResultsIn total, 112 patients with different clinical manifestations associated to the clinical LRBA phenotype were evaluated. The LRBA expression varies greatly between different healthy donors and patients. Despite the great variability in the LRBA expression, six patients with a decrease in LRBA protein expression were observed. However, no pathogenic or possible pathogenic biallelic variants in LRBA, or in genes related with the immune system were found.ConclusionLRBA expression varies greatly between different healthy donors and patients. Reduction LRBA-expression in 6 patients without homozygous mutations in LRBA or in associated genes with the immune system was observed. These results suggest the other genetic, epigenetic or environmental mechanisms, that might be regulated the LRBA-expression.Copyright © 2019 Universidad del Valle.

32 keywords...

hide…