Article
Early bone marrow alterations in patients with adenosine deaminase 2 deficiency across disease phenotypes and severities.
The Journal of allergy and clinical immunology - 1 Feb 2025
Bulté Dimitri, Barzaghi Federica, Mesa-Nuñez Cristina, Rigamonti Chiara, Basso-Ricci Luca, Visconti Camilla, Crippa Stefania, Pettinato Emanuela, Gilioli Diego, Milani Raffaella, Quaranta Pamela, Caorsi Roberta, Cafaro Alessia, Cangemi Giuliana, Lupia Michela, Schena Francesca, Grossi Alice, Di Colo Giulia, Federici Silvia, Insalaco Antonella, De Benedetti Fabrizio, Marktel Sarah, Di Micco Raffaella, Bernardo Maria Ester, Scala Serena, Cicalese Maria Pia, Conti Francesca, Miano Maurizio, Gattorno Marco, Dufour Carlo, Aiuti Alessandro, Mortellaro Alessandra
Abstract excerpt
BACKGROUND: Deficiency of adenosine deaminase 2 (DADA2) is a complex monogenic disease caused by recessive mutations in the ADA2 gene. DADA2 exhibits a broad clinical spectrum encompassing vasculitis, immunodeficiency, and hematologic abnormalities. Yet, the impact of DADA2 on the bone marrow (BM) microenvironment is largely unexplored. OBJECTIVE: This study comprehensively examined the BM and peripheral blood of...
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