El Kettani Assiya, Ailal Fatima, El Bakkouri Jalila, Zerouali Khalid, Béziat Vivien, Jouanguy Emmanuelle, Casanova Jean-Laurent, Bousfiha Ahmed Aziz
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.
Pathogens. 2022 Jul 29;11(8):857. doi: 10.3390/pathogens11080857.
Patients with inborn errors of immunity (IEI) are prone to develop infections, either due to a broad spectrum of pathogens or to only one microbe. Since skin is a major barrier tissue, cutaneous infections are among the most prevalent in patients with IEI due to high exposures to many microbes. In the general population, human papillomaviruses (HPVs) cause asymptomatic or self-healing infections, but, in patients with IEI, unusual clinical expression of HPV infection is observed ranging from epidermodysplasia verruciformis (EV) (a rare disease due to β-HPVs) to profuse, persistent, and recalcitrant warts (due to α-, γ-, and μ-HPVs) or even tree man syndrome (due to HPV2). Mutations in EVER1, EVER2, and CIB1 are associated with EV phenotype; GATA2, CXCR4, and DOCK8 mutations are typically associated with extensive HPV infections, but there are several other IEI that are less frequently associated with severe HPV lesions. In this review, we describe clinical, immunological, and genetic patterns of IEI related to severe HPV cutaneous infections and propose an algorithm for diagnosis of IEI with severe warts associated, or not, with lymphopenia.
先天性免疫缺陷（IEI）患者容易发生感染，这可能是由于多种病原体或仅一种微生物引起的。由于皮肤是主要的屏障组织，IEI患者因大量接触多种微生物，皮肤感染是最常见的感染类型之一。在普通人群中，人乳头瘤病毒（HPV）会引起无症状或自愈性感染，但在IEI患者中，HPV感染会出现异常的临床表现，从疣状表皮发育不良（EV，一种由β-HPV引起的罕见疾病）到大量、持续且顽固的疣（由α-、γ-和μ-HPV引起），甚至是树人综合征（由HPV2引起）。EVER1、EVER2和CIB1的突变与EV表型相关；GATA2、CXCR4和DOCK8突变通常与广泛的HPV感染相关，但还有其他几种IEI与严重的HPV病变相关性较低。在本综述中，我们描述了与严重HPV皮肤感染相关的IEI的临床、免疫学和遗传学模式，并提出了一种用于诊断与淋巴细胞减少相关或不相关的严重疣的IEI的算法。
