Hospital de Dona Estefânia, Centro Hospitalar Universitário de Lisboa Central, Lisbon, Portugal.
Departamento de Anatomia Patológica, Centro Hospitalar Universitário de Lisboa Central, Lisbon, Portugal.
Front Immunol. 2021 Apr 28;12:654167. doi: 10.3389/fimmu.2021.654167. eCollection 2021.
In immunocompromised patients, EBV may elicit B-cell transformation and proliferation. A 5-year-old microcephalic boy was admitted with fever and non-malignant polymorphic T-cell lymphoproliferative disease associated with EBV. A presumptive diagnosis of primary immunodeficiency with inability to control EBV was made and next-generation sequencing led to the identification of a novel ZBTB24 mutation (ICF2-syndrome). This case shows that susceptibility to EBV seems to be particular of ICF-2 as it has not been described in the other types of ICF. It is mandatory to raise the hypothesis of an underlying PID in case of severe EBV infection.
在免疫功能低下的患者中,EBV 可能引发 B 细胞转化和增殖。一名 5 岁小头畸形男孩因发热和非恶性多形性 T 细胞淋巴增生性疾病伴 EBV 入院。疑似诊断为原发性免疫缺陷,无法控制 EBV,下一代测序导致发现一种新型 ZBTB24 突变(ICF2 综合征)。该病例表明,对 EBV 的易感性似乎是 ICF-2 的特征,在其他类型的 ICF 中尚未描述。在发生严重 EBV 感染时,必须假设存在潜在的 PID。