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.
Keywords: Artemis deficiency; Ataxia telangiectasia; granuloma formation; inborn errors of immunity; primary immunodeficiency; rubella virus vaccine strain; stem cell transplantation.
Copyright © 2022 Baumann, Schulte, Groß, Beier, Ludwig, Wahn, Hofmann, Maecker-Kolhoff, Sauer, Kaiser-Labusch, Karimian, Blume-Peytavi, Ghoreschi, Ott, Perelygina, Klemann, Blankenstein, von Bernuth and Krüger.