Robin Jacquot, Maurine Jouret, Mathieu Gerfaud Valentin, Maël Richard, Yvan Jamilloux, Florent Rousset, Jean-François Emile, Julien Haroche, Lars Steinmüller, Franck Zekre, Alice Phan, Alexandre Belot, Pascal Seve
H syndrome is a rare autosomal recessive genetic disorder characterized by the following clinical features: cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, short stature, hallux valgus, hyperglycemia, fixed flexion contractures of the toe joints, and the proximal interphalangeal joints. In rare cases, autoinflammatory and lymphoproliferative manifestations have also been reported. This disorder is due to loss-of-function mutations in SLC29A3 gene, which encode the equilibrative nucleoside transporter ENT3...
2023: Frontiers in Immunology