Potential protein-phenotype correlation in three lipopolysaccharide-responsive beige-like anchor protein-deficient patients.

ABSTRACT:

Background

Patients with lipopolysaccharide (LPS)-responsive beige-like anchor protein (LRBA) deficiency have a variety of clinical symptoms, but there is no apparent genotype-phenotype correlation, and patients carrying the same mutations may have different phenotypes. Therefore, it is not easy for doctors to make a decision regarding hematopoietic stem cell transplantation (HSCT) for LRBA-deficient patients. We hypothesized that there may be a protein-phenotype correlation to indicate HSCT for LRBA-deficient patients.

Aim

To report on three Chinese LRBA-deficient patients and determine the correlation between residual protein expression and disease phenotypes.

Methods

Clinical data of three Chinese LRBA-deficient patients were collected, and protein levels we

SUBMITTER: Tang WJ 

PROVIDER: S-EPMC8316938 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature