Paediatric Pulmonology, Allergy and Neonatology, Hannover Medical School, Hannover, Germany.
Department of Pediatric Hematology, Oncology and Stem Cell Transplantation, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany.
Front Immunol. 2022 Jun 2;13:886540. doi: 10.3389/fimmu.2022.886540. eCollection 2022.
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.
我们报告了两例 DNA 修复障碍（Artemis 缺陷、共济失调毛细血管扩张症）患者，他们因减毒风疹疫苗接种而出现破坏性皮肤肉芽肿。两名患者均表现为幼稚 T 细胞减少。造血干细胞移植后，皮肤病变迅速消退。然而，AT 患者在 HSCT 后 6 个月因严重肝静脉闭塞性疾病死亡。从该患者获得了出生后的干血斑，显示缺乏 T 细胞受体切除环（TRECs）。因此，新生儿筛查可能有助于防止中度 T 细胞缺陷的患者接受潜在导致肉芽肿的减毒风疹疫苗。
