Clinical, immunological and genetic characteristic of patients with clinical phenotype associated to LRBA-deficiency in Colombia.

ABSTRACT:

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 with LRBA-deficiency. To date, no patients with this condition have been reported in Colombia.

Objective

To evaluate the expression of the LRBA protein in patients from Colombia with clinical phenotype associated to LRBA-deficiency.

Methods

In the present study the LRBA-expression in patients from Colombia with clinical phenotype associated to LRBA-deficien

SUBMITTER: Martinez-Jaramillo C 

PROVIDER: S-EPMC7141146 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature