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

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.

Keywords: Artemis deficiency; Ataxia telangiectasia; granuloma formation; inborn errors of immunity; primary immunodeficiency; rubella virus vaccine strain; stem cell transplantation.

Publication types

  • Case Reports

MeSH terms

  • Ataxia Telangiectasia* / genetics
  • Child
  • DNA Repair-Deficiency Disorders* / complications
  • Granuloma / genetics
  • Hematopoietic Stem Cell Transplantation* / adverse effects
  • Humans
  • Immunologic Deficiency Syndromes* / genetics
  • Infant, Newborn
  • Rubella virus / genetics