Two siblings presenting with novel ADA2 variants, lymphoproliferation, persistence of large granular lymphocytes, and T-cell perturbations

F Saettini, G Fazio, P Corti, M Quadri, C Bugarin, G Gaipa, F Penco, D Moratto, M Chiarini, M Baronio, L Gazzurelli, L Imberti, S Paghera, S Giliani, G Cazzaniga, A Plebani, R Badolato, V Lougaris, M Gattorno, A Biondi

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)108525
JournalClin. Immunol.
Volume218
DOIs
Publication statusPublished - Sep 2020

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