Laboratory of Clinical Immunology-Inflammation and Allergy (LICIA), Faculty of Medicine and Pharmacy, Hassan II University, Casablanca 20250, Morocco.
Laboratory of Bacteriology, Virology and Hospital Hygiene, Ibn Rochd University Hospital, Casablanca 20250, Morocco.
Viruses. 2024 Sep 5;16(9):1415. doi: 10.3390/v16091415.
Epidermodysplasia verruciformis (EV) is a rare genodermatosis caused by β-human papillomaviruses (HPV) in immunodeficient patients. EV is characterized by flat warts and pityriasis-like lesions and might be isolated or syndromic, associated with some other infectious manifestations. We report here three patients from two independent families, with syndromic EV for both of them. By whole exome sequencing, we found that the patients carry new homozygous variants in STK4, both leading to a premature stop codon. STK4 deficiency causes a combined immunodeficiency characterized by a broad infectious susceptibility to bacteria, viruses, and fungi. Auto-immune manifestations were also reported. Deep immunophenotyping revealed multiple cytopenia in the three affected patients, in particular deep CD4 T cells deficiency. We report here the fourth and the fifth cases of the syndromic EV due to STK4 deficiency.
疣状表皮发育不良（EV）是一种罕见的遗传性皮肤病，由免疫缺陷患者的β型人乳头瘤病毒（HPV）引起。EV 的特征是扁平疣和类银屑病样病变，可能是孤立的或综合征性的，与其他一些感染表现有关。我们在此报告三例来自两个独立家庭的患者，他们都患有综合征性 EV。通过全外显子组测序，我们发现患者携带 STK4 的新纯合变异，均导致提前终止密码子。STK4 缺乏导致联合免疫缺陷，其特征是对细菌、病毒和真菌的广泛易感性感染。自身免疫表现也有报道。深度免疫表型分析显示，三名受影响的患者均存在多种血细胞减少症，特别是 CD4 T 细胞严重缺乏。我们在此报告第四例和第五例由于 STK4 缺乏引起的综合征性 EV 病例。
