Clinical Features of Female Taiwanese Carriers with X-linked Chronic Granulomatous Disease from 2004 to 2019.
Chao-Yi WuYi-Ching ChenWen-I LeeJing-Long HuangLi-Chen ChenLiang-Shiou OuTsung-Chieh YaoTang-Her JaingShih-Hsiang ChenChi-Jou LiangChen-Chen KangCheng-Hsun ChiuPublished in: Journal of clinical immunology (2021)
One carrier had undetectable Cyto b558 expression and an extremely low ROS production, and consequently presented with an XL-CGD phenotype. One mother and her daughter experienced recurrent neck lymphadenitis despite having sufficient ROS production. Significant autoimmunity/autoinflammation did not develop in any of the carriers. Studies with a longer follow-up period are needed to validate our findings.