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

Bibliographische Detailangaben
Veröffentlicht in:	Clinical immunology (Orlando, Fla.). - 1999. - 218(2020) vom: 15. Sept., Seite 108525
1. Verfasser:	Saettini, F (VerfasserIn)
Weitere Verfasser:	Fazio, G, Corti, P, Quadri, M, Bugarin, C, Gaipa, G, Penco, F, Moratto, D, Chiarini, M, Baronio, M, Gazzurelli, L, Imberti, L, Paghera, S, Giliani, S, Cazzaniga, G, Plebani, A, Badolato, R, Lougaris, V, Gattorno, M, Biondi, A
Format:	Online-Aufsatz
Sprache:	English
Veröffentlicht:	2020
Zugriff auf das übergeordnete Werk:	Clinical immunology (Orlando, Fla.)
Schlagworte:	Case Reports Letter ADA2 deficiency DADA2 Hypogammaglobulinemia Large granular lymphocytes Lymphopenia Lymphoproliferation T-cell repertoire Intercellular Signaling Peptides and Proteins mehr... ADA2 protein, human EC 3.5.4.4 Adenosine Deaminase

Beschreibung
Zusammenfassung:	Copyright © 2020 Elsevier Inc. All rights reserved. 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
Beschreibung:	Date Completed 17.05.2021 Date Revised 17.05.2021 published: Print-Electronic Citation Status MEDLINE
ISSN:	1521-7035
DOI:	10.1016/j.clim.2020.108525