Rheumatology (Oxford, England)
Redox imbalance and NLRP3 activation: H Syndrome mistaken for CAPS-a case report.
Serena Palmeri, Anna Agrusti, Valentina Natoli, Silvia Maria Orsi, Enrico Drago, Federica Penco, Francesca Schena, Paola Bocca, Ignazia Prigione, Roberta Bertelli, Silvia Viaggi, Riccardo Papa, Stefano Volpi, Roberta Caorsi, Marco Gattorno
Published: 202510.1093/rheumatology/keaf663
Abstract
OBJECTIVES: H syndrome is a rare autosomal recessive disorder caused by mutations in SLC29A3, encoding the nucleoside transporter hENT3. Its heterogeneous clinical presentation often includes skin hyperpigmentation, systemic inflammation, endocrinopa…
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