Tocilizumab for the Treatment of SLC29A3 Mutation Positive PHID Syndrome

Pediatrics
Nadia K RafiqPaul Brogan

Abstract

Pigmentary hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus (PHID) is associated with recessive mutations in SLC29A3, encoding the equilibrative nucleoside transporter hENT3 expressed in mitochondria, causing PHID and H syndromes, familial Rosai-Dorfman disease, and histiocytosis-lymphadenopathy-plus syndrome. Autoinflammation is increasingly recognized in these syndromes. We previously reported a 16-year-old girl with PHID syndrome associated with severe autoinflammation that was recalcitrant to interleukin-1 and tumor necrosis factor-α blockade. Tocilizumab is a humanized, monoclonal, anti-human interleukin-6 receptor antibody routinely used to treat arthritis in children and adults. Herein we report the first case of successful treatment of PHID syndrome using tocilizumab. Before commencing tocilizumab, there was evidence of significant systemic inflammation, and progressive sclerodermatous changes (physician global assessment [PGA] 7/10). Twelve weeks after starting tocilizumab (8 mg/kg every 2 weeks, intravenously) systemic inflammatory symptoms improved, and acute phase response markers normalized; serum amyloid A reduced from 178 to 8.4 mg/L. After a dose increase to 12 mg/kg every 2 weeks her energy...Continue Reading

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Citations

Dec 24, 2019·Pediatric Dermatology·Sukesh Gautam ShankarMurugan Sundaram
Feb 5, 2019·Rheumatology·C PapadopoulouP A Brogan
Jan 29, 2019·La Presse médicale·Sophie Georgin-LavialleGilles Grateau
May 6, 2021·International Journal of Dermatology·Pierre HamannTullia De Risi-Pugliese
Aug 10, 2020·Journal of Pediatric Hematology/oncology·Julie BlattNathan D Montgomery
Jul 2, 2021·Pediatric Rheumatology Online Journal·Laura Ventura-EspejoJan Ramakers
Aug 6, 2021·Dermatologic Therapy·Hagar NofalAlexandros Onoufriadis
Aug 26, 2021·Cell Metabolism·Alissa TrzeciakJustin Shaun Arnold Perry

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