Andrea Lisco, Amy P Hsu, Dimana Dimitrova, Diana M Proctor, Emily M Mace, Peiying Ye, Megan V Anderson, Stephanie N Hicks, Christopher Grivas, Dima A Hammoud, Maura Manion, Gabriel J Starrett, Alvin Farrel, Kerry Dobbs, Isaac Brownell, Christopher Buck, Luigi D Notarangelo, Jordan S Orange, Warren J Leonard, Michael I Orestes, Anju T Peters, Jennifer A Kanakry, Julia A Segre, Heidi H Kong, Irini Sereti
Human papillomavirus (HPV) infections underlie a wide spectrum of both benign and malignant epithelial diseases. In this report, we describe the case of a young man who had encephalitis caused by herpes simplex virus during adolescence and currently presented with multiple recurrent skin and mucosal lesions caused by HPV. The patient was found to have a pathogenic germline mutation in the X-linked interleukin-2 receptor subunit gamma gene ( IL2RG ), which was somatically reverted in T cells but not in natural killer (NK) cells...
September 2, 2021: New England Journal of Medicine