@article{706dc0ce10e64021a8ae437e9e69d804,
title = "Two siblings presenting with novel ADA2 variants, lymphoproliferation, persistence of large granular lymphocytes, and T-cell perturbations",
abstract = "The presence of large granular lymphocytes has been reported in patients with ADA2 deficiency and T-LGL leukemia. Here we describe two siblings with novel ADA2 variants, expanding the mutational spectrum of ADA2 deficiency. We show that lymphoproliferation, persistence of large granular lymphocytes, T-cell perturbations, and activation of PI3K pathway, measured by means of phosphorylation levels of S6, are detectable in DADA2 patients without T-LGL leukemia.",
author = "F Saettini and G Fazio and P Corti and M Quadri and C Bugarin and G Gaipa and F Penco and D Moratto and M Chiarini and M Baronio and L Gazzurelli and L Imberti and S Paghera and S Giliani and G Cazzaniga and A Plebani and R Badolato and V Lougaris and M Gattorno and A Biondi",
note = "Copyright {\textcopyright} 2020 Elsevier Inc. All rights reserved.",
year = "2020",
month = sep,
doi = "10.1016/j.clim.2020.108525",
language = "English",
volume = "218",
pages = "108525",
journal = "Clin. Immunol.",
issn = "1521-6616",
publisher = "Academic Press Inc.",
}