DE VILLARTAY , Jean-Pierre

In mammals, the majority of DNA double-strand breaks are processed by the Non Homologous End-Joining pathway (NHEJ), composed of seven factors: Ku70, Ku80, DNA-PKcs, Artemis, Xrcc4 (X4), DNA Ligase IV (L4) and Cernunnos/XLF. Cernunnos is part of the ligation complex, constituted by X4 and L4. In order to improve our knowledge on the structure...

Hoyeraal-Hreidarsson syndrome (HHS) is a severe form of Dyskeratosis congenita characterized by developmental defects, bone marrow failure and im-munodeficiency and has been associated with telom-ere dysfunction. Recently, mutations in Regulator of Telomere ELongation helicase 1 (RTEL1), a helicase first identified in Mus musculus as being...

Actin-related protein 2/3 complex subunit 1B (ARPC1B) deficiency is a recently described inborn error of immunity (IEI) presenting with combined immunodeficiency and characterized by recurrent infections and thrombocytopenia. Manifestations of immune dysregulation, including colitis, vasculitis, and severe dermatitis, associated with...