Case Report: Consistent disease manifestations with a staggered time course in two identical twins affected by adenosine deaminase 2 deficiency

Case Report: Consistent disease manifestations with a staggered time course in two identical twins affected by adenosine deaminase 2 deficiency

Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive disease associated with a highly variable clinical presentation, including vasculitis, immunodeficiency, and hematologic manifestations, potentially progressing over time. The present study describes the long-term evolution of the...

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Main Authors: Federica Barzaghi, Maria Pia Cicalese, Matteo Zoccolillo, Immacolata Brigida, Matteo Barcella, Ivan Merelli, Claudia Sartirana, Monica Zanussi, Valeria Calbi, Maria Ester Bernardo, Francesca Tucci, Maddalena Migliavacca, Fabio Giglio, Matteo Doglio, Daniele Canarutto, Francesca Ferrua, Giulia Consiglieri, Giulia Prunotto, Francesco Saettini, Sonia Bonanomi, Patrizia Rovere-Querini, Giulia Di Colo, Tatiana Jofra, Georgia Fousteri, Federica Penco, Marco Gattorno, Michael S. Hershfield, Lucia Bongiovanni, Maurilio Ponzoni, Sarah Marktel, Raffaella Milani, Jacopo Peccatori, Fabio Ciceri, Alessandra Mortellaro, Alessandro Aiuti
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-09-01
Series:Frontiers in Immunology
Subjects:
ADA2
adenosine deaminase 2 deficiency
neutropenia
T large granular lymphocytes
TLGL
HSCT
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2022.910021/full

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