Publications by authors named "Atefeh Heydari"
J Clin Lab Anal
February 2021
Article Synopsis
- X-linked chronic granulomatous disease (X-CGD) is a serious immune disorder linked to mutations in the CYBB gene, specifically affecting the gp91 subunit, leading to severe infections.
- A study on four Iranian patients identified four mutations, including a novel one that disrupts protein functions, correlating with various clinical symptoms like pneumonia and bowel disease.
- This research enhances the understanding of X-CGD mutations in Iran, facilitating faster patient identification, carrier detection, and potentially enabling prenatal diagnostics for at-risk families.
