B-cell development and functions and therapeutic options in adenosine deaminase-deficient patients.

ABSTRACT:

Background

Adenosine deaminase (ADA) deficiency causes severe cellular and humoral immune defects and dysregulation because of metabolic toxicity. Alterations in B-cell development and function have been poorly studied. Enzyme replacement therapy (ERT) and hematopoietic stem cell (HSC) gene therapy (GT) are therapeutic options for patients lacking a suitable bone marrow (BM) transplant donor.

Objective

We sought to study alterations in B-cell development in ADA-deficient patients and investigate the ability of ERT and HSC-GT to restore normal B-cell differentiation and function.

Methods

Flow cytometry was used to characterize B-cell development in BM and the periphery. The percentage of gene-corrected B cells was measured by using quantitative PCR. B cells were assess

SUBMITTER: Brigida I 

PROVIDER: S-EPMC4489526 | biostudies-literature | 2014 Mar

REPOSITORIES: biostudies-literature