School of Public Health and Preventive Medicine, Monash University, Clayton, Australia.
ICPMR, NSW Health Pathology, Westmead Hospital, Sydney, Australia.
J Clin Immunol. 2024 May 17;44(5):118. doi: 10.1007/s10875-024-01712-x.
Deficiency of Adenosine Deaminase 2 (DADA2) patients presenting with primary immunodeficiency are at risk of uncontrolled EBV infection and secondary malignancies including EBV-related lymphoproliferative disorders (LPD). This paper describes the first case of EBV related diffuse large B-cell lymphoma in a patient with DADA2 and uncontrolled EBV infection. Consideration should be given to monitoring for EBV viraemia and to preventative EBV specific therapy in DADA2 and patients with at risk primary immunodeficiencies. A type I interferon (IFN) gene signature is associated with DADA2 though its association with immune dysregulation is unclear.
腺苷脱氨酶 2（DADA2）缺乏症患者表现为原发性免疫缺陷，存在 EBV 感染失控和继发恶性肿瘤的风险，包括 EBV 相关淋巴增殖性疾病（LPD）。本文描述了首例 DADA2 患者伴 EBV 感染失控的 EBV 相关弥漫性大 B 细胞淋巴瘤。应考虑监测 EBV 病毒血症，并对 DADA2 患者和存在风险的原发性免疫缺陷患者进行 EBV 特异性预防性治疗。尽管 DADA2 与 I 型干扰素（IFN）基因特征相关，但与免疫失调的关系尚不清楚。
Zotero 插件