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

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

Copyright © 2020 Elsevier Inc. All rights reserved.

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
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520 |a 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 
650 4 |a Case Reports 
650 4 |a Letter 
650 4 |a ADA2 deficiency 
650 4 |a DADA2 
650 4 |a Hypogammaglobulinemia 
650 4 |a Large granular lymphocytes 
650 4 |a Lymphopenia 
650 4 |a Lymphoproliferation 
650 4 |a T-cell repertoire 
650 7 |a Intercellular Signaling Peptides and Proteins  |2 NLM 
650 7 |a ADA2 protein, human  |2 NLM 
650 7 |a EC 3.5.4.4  |2 NLM 
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700 1 |a Fazio, G  |e verfasserin  |4 aut 
700 1 |a Corti, P  |e verfasserin  |4 aut 
700 1 |a Quadri, M  |e verfasserin  |4 aut 
700 1 |a Bugarin, C  |e verfasserin  |4 aut 
700 1 |a Gaipa, G  |e verfasserin  |4 aut 
700 1 |a Penco, F  |e verfasserin  |4 aut 
700 1 |a Moratto, D  |e verfasserin  |4 aut 
700 1 |a Chiarini, M  |e verfasserin  |4 aut 
700 1 |a Baronio, M  |e verfasserin  |4 aut 
700 1 |a Gazzurelli, L  |e verfasserin  |4 aut 
700 1 |a Imberti, L  |e verfasserin  |4 aut 
700 1 |a Paghera, S  |e verfasserin  |4 aut 
700 1 |a Giliani, S  |e verfasserin  |4 aut 
700 1 |a Cazzaniga, G  |e verfasserin  |4 aut 
700 1 |a Plebani, A  |e verfasserin  |4 aut 
700 1 |a Badolato, R  |e verfasserin  |4 aut 
700 1 |a Lougaris, V  |e verfasserin  |4 aut 
700 1 |a Gattorno, M  |e verfasserin  |4 aut 
700 1 |a Biondi, A  |e verfasserin  |4 aut 
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