Article
Progressive Depletion of B and T Lymphocytes in Patients with Ataxia Telangiectasia: Results of the Italian Primary Immunodeficiency Network.
Journal of clinical immunology - 1 May 2022
Cirillo Emilia, Polizzi Agata, Soresina Annarosa, Prencipe Rosaria, Giardino Giuliana, Cancrini Caterina, Finocchi Andrea, Rivalta Beatrice, Dellepiane Rosa M, Baselli Lucia A, Montin Davide, Trizzino Antonino, Consolini Rita, Azzari Chiara, Ricci Silvia, Lodi Lorenzo, Quinti Isabella, Milito Cinzia, Leonardi Lucia, Duse Marzia, Carrabba Maria, Fabio Giovanna, Bertolini Patrizia, Coccia Paola, D'Alba Irene, Pession Andrea, Conti Francesca, Zecca Marco, Lunardi Claudio, Bianco Manuela Lo, Presti Santiago, Sciuto Laura, Micheli Roberto, Bruzzese Dario, Lougaris Vassilios, Badolato Raffaele, Plebani Alessandro, Chessa Luciana, Pignata Claudio
Abstract excerpt
Ataxia telangiectasia (AT) is a rare neurodegenerative genetic disorder due to bi-allelic mutations in the Ataxia Telangiectasia Mutated (ATM) gene. The aim of this paper is to better define the immunological profile over time, the clinical immune-related manifestations at diagnosis and during follow-up, and to attempt a genotype-phenotype correlation of an Italian cohort of AT patients. Retrospective data of 69...
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