Wenjun Mou, Zhipeng Zhao, Liwei Gao, Libing Fu, Jia Li, Anxia Jiao, Yun Peng, Tong Yu, Yan Guo, Lanqin Chen, Hao Wang, Jun Liu, Qiang Qin, Baoping Xu, Xiuyun Liu, Jianxin He, Jingang Gui
While most missense mutations of the IKBKG gene typically result in Ectodermal Dysplasia with Immunodeficiency, there have been rare reported instances of missense mutations of the IKBKG gene causing both Incontinentia Pigmenti (IP) and immunodeficiency in female patients. In this study, we described an atypical IP case in a 19-year-old girl, characterized by hyperpigmented and verrucous skin areas over the entire body. Remarkably, she experienced recurrent red papules whenever she had a feverish upper respiratory tract infection...
October 13, 2023: Journal of Clinical Immunology