severe combined immunodeficiency (scid) represents a rare group of primary immunodeficiency disorders (pids), with known or unknown genetic alterations. here, we report a new interleukin 2 receptor, gamma chain (il-2rg) mutation in an iranian scid newborn.the patient was a 6-day old boy with a family history of pid. the child was screened using a molecular-based analysis for the assessment of t...

OBJECTIVES The purpose of this study was to investigate the association between T cell receptor excision circle levels in peripheral blood mononuclear cells and regulatory T cells that co-express CD25 and Foxp3 in healthy children and adolescents of different ages. MATERIALS AND METHODS The quantification of signal-joint T-cell receptor excision circle levels in the genomic DNA of peripheral ...

The vast majority of patients suffering from a primary immunodeficiency (PID) have defects in their T- and/or B-cell compartments. Despite advances in molecular diagnostics, in many patients no underlying genetic defect has been identified. B- and T-lymphocytes are unique in their ability to create a receptor by genomic rearrangement of their antigen receptor genes via V(D)J recombination. Duri...

Early-onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH) is a neurodegenerative disorder caused by mutation in the aprataxin (APTX)-coding gene APTX, which involved DNA single-strand break repair (SSBR). The neurological abnormalities associated EAOH are similar to those observed patients ataxia-telangiectasia. However, immunological have not been described. In this study, we rep...