Dysregulation in B-cell responses and T follicular helper cell function in ADA2 deficiency patients.

doi:10.1002/eji.202048549

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Article

Dysregulation in B-cell responses and T follicular helper cell function in ADA2 deficiency patients.

European journal of immunology - 1 Jan 2021

Schena Francesca, Penco Federica, Volpi Stefano, Pastorino Claudia, Caorsi Roberta, Kalli Francesca, Fenoglio Daniela, Salis Annalisa, Bertoni Arinna, Prigione Ignazia, Bocca Paola, Insalaco Antonella, De Benedetti Fabrizio, Antonini Francesca, Grossi Alice, Signa Sara, Damonte Gianluca, Ceccherini Isabella, Filaci Gilberto, Traggiai Elisabetta, Gattorno Marco

Abstract excerpt

Adenosine deaminase 2 deficiency (DADA2) is an autoinflammatory disease characterized by inflammatory vasculopathy, early strokes associated often with hypogammaglobulinemia. Pure red cell aplasia, thrombocytopenia, and neutropenia have been reported. The defect is due to biallelic loss of function of ADA2 gene, coding for a protein known to regulate the catabolism of extracellular adenosine. We therefore...

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PMID: 32707604
DOI: 10.1002/eji.202048549

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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