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Altered NK-cell compartment and dysfunctional NKG2D/NKG2D-ligand axis in patients with ataxia-telangiectasia.

Clinical immunology (Orlando, Fla.) - 1 Sept 2021

Desimio Maria Giovanna, Finocchi Andrea, Di Matteo Gigliola, Di Cesare Silvia, Giancotta Carmela, Conti Francesca, Chessa Luciana, Piane Maria, Montin Davide, Dellepiane Marta, Rossi Paolo, Cancrini Caterina, Doria Margherita

Abstract excerpt

Ataxia-telangiectasia (A-T) is a multisystem disorder caused by biallelic pathogenic variants in the gene encoding A-T mutated (ATM) kinase, a master regulator of the DNA damage response (DDR) pathway. Most A-T patients show cellular and/or humoral immunodeficiency that has been associated with cancer risk and reduced survival, but NK cells have not been thoroughly studied. Here we investigated NK cells of A-T...

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Identifiers

PMID: 34298181
DOI: 10.1016/j.clim.2021.108802

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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