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Front Immunol ; 13: 886540, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35720367

RESUMEN

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.


Asunto(s)
Ataxia Telangiectasia , Trastornos por Deficiencias en la Reparación del ADN , Trasplante de Células Madre Hematopoyéticas , Síndromes de Inmunodeficiencia , Ataxia Telangiectasia/genética , Niño , Trastornos por Deficiencias en la Reparación del ADN/complicaciones , Granuloma/genética , Trasplante de Células Madre Hematopoyéticas/efectos adversos , Humanos , Síndromes de Inmunodeficiencia/genética , Recién Nacido , Virus de la Rubéola/genética
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