PDF(Pubmed)
Abstract：
We report two patients with DNA repair disorders (Artemis deficiency, Ataxia telangiectasia) with destructive skin granulomas, presumably triggered by live-attenuated rubella vaccinations. Both patients showed reduced naïve T cells. Rapid resolution of skin lesions was observed following hematopoietic stem cell transplantation. However, the patient with AT died due to complications of severe hepatic veno-occlusive disease 6 month after HSCT. Dried blood spots obtained after birth were available from this patient and showed absent T-cell receptor excision circles (TRECs). Therefore, newborn screening may help to prevent patients with moderate T-cell deficiency from receiving live-attenuated rubella vaccine potentially causing granulomas.
摘要：
我们报告了两名DNA修复障碍患者（Artemis缺乏症，共济失调毛细血管扩张症）伴有破坏性皮肤肉芽肿，可能是由减毒风疹疫苗接种引发的。两名患者均显示原始T细胞减少。造血干细胞移植后观察到皮肤病变的快速消退。然而,AT患者在HSCT后6个月死于严重肝静脉闭塞疾病的并发症。出生后获得的干血斑可从该患者获得，并显示不存在T细胞受体切除环（TREC）。因此,新生儿筛查可能有助于防止中度T细胞缺乏症患者接受可能导致肉芽肿的减毒风疹活疫苗.
