Article
Clinical, immunological and genetic characteristic of patients with clinical phenotype associated to LRBA-deficiency in Colombia.
Colombia medica (Cali, Colombia) - 30 Sept 2019
Martínez-Jaramillo Catalina, Gutierrez-Hincapie Sebastian, Arango Julio César Orrego, Vásquez-Duque Gloria María, Erazo-Garnica Ruth María, Franco Jose Luis, Trujillo-Vargas Claudia Milena
Abstract excerpt
BACKGROUND: LPS-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...
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