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病例报告:两例 DNA 双链断裂修复障碍患儿因风疹病毒引起的皮肤肉芽肿 - 造血干细胞移植后的结果。

Case Report: Rubella Virus-Induced Cutaneous Granulomas in Two Pediatric Patients With DNA Double Strand Breakage Repair Disorders - Outcome After Hematopoietic Stem Cell Transplantation.

机构信息

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.

出版信息

Front Immunol. 2022 Jun 2;13:886540. doi: 10.3389/fimmu.2022.886540. eCollection 2022.

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。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c789/9201904/b9ea09c4eca3/fimmu-13-886540-g001.jpg

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