Multifocal gastric adenocarcinoma in a patient with LRBA deficiency.

ABSTRACT:

Background

Lipopolysaccharide-responsive, beige-like anchor protein (LRBA) deficiency is characterized by primary immunodeficiency and autoimmunity. Cancer may present another feature of LRBA deficiency. We describe a case history of a young adult with LRBA deficiency and two independent malignancies.

Methods

Family-trio whole exome sequencing with unbiased phenotype ontology approach was used for identification of causative mutations of a primary immune deficiency disorder. Additionally, we sought to identify germline mutations in genes known to be associated with two independent malignancies using a targeted approach. A cytotoxic T-lymphocyte associated protein 4 (CTLA4) expression in T lymphocytes was determined by flow cytometry.

Results

In the patient with clinic

SUBMITTER: Bratanic N 

PROVIDER: S-EPMC5516372 | biostudies-literature | 2017 Jul

REPOSITORIES: biostudies-literature