Efficacy of lentivirus-mediated gene therapy in an Omenn syndrome recombination-activating gene 2 mouse model is not hindered by inflammation and immune dysregulation

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Capo V., Castiello M. C., Fontana E., Penna S., Bosticardo M., Draghici E., ...More

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, vol.142, no.3, pp.928-949, 2018 (SCI-Expanded) identifier identifier identifier


Background: Omenn syndrome (OS) is a rare severe combined immunodeficiency associated with autoimmunity and caused by defects in lymphoid-specific V(D)J recombination. Most patients carry hypomorphic mutations in recombination-activating gene (RAG) 1 or 2. Hematopoietic stem cell transplantation is the standard treatment; however, gene therapy (GT) might represent a valid alternative, especially for patients lacking a matched donor.