遗传性白细胞介素 2 诱导的 T 细胞（ITK）激酶缺陷症在疣状表皮发育不良和霍奇金淋巴瘤患者的同胞中。
Inherited Interleukin 2-Inducible T-Cell (ITK) Kinase Deficiency in Siblings With Epidermodysplasia Verruciformis and Hodgkin Lymphoma.
机构信息
Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania.
Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Iran.
出版信息
Clin Infect Dis. 2019 May 17;68(11):1938-1941. doi: 10.1093/cid/ciy942.
Abstract
Biallelic mutations in the ITK gene cause a T-cell primary immunodeficiency with Epstein-Barr virus (EBV)-lymphoproliferative disorders. We describe a novel association of a homozygous ITK mutation with β-human papillomavirus (HPV)-positive epidermodysplasia verruciformis. Thus, loss of function in ITK can result in broad dysregulation of T-cell responses to oncogenic viruses, including β-HPV and EBV.
摘要
ITK 基因的双等位基因突变可导致 T 细胞原发性免疫缺陷伴 EBV 淋巴组织增生性疾病。我们描述了一种新的 ITK 突变纯合子与β-人乳头瘤病毒（HPV）阳性疣状表皮发育不良的关联。因此，ITK 的功能丧失可导致对致癌病毒（包括β-HPV 和 EBV）的 T 细胞反应广泛失调。
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