Successful treatment of congenital erythropoietic porphyria using matched unrelated hematopoietic stem cell transplantation in an adult: A case report - Nantes Université
Article Dans Une Revue Skin Health and Disease Année : 2024

Successful treatment of congenital erythropoietic porphyria using matched unrelated hematopoietic stem cell transplantation in an adult: A case report

Résumé

Congenital erythropoietic porphyria (CEP), or Gunther disease, is a rare genetic disease responsible for severe dermatologic, hepatic and/or haematological damages related to the deficient activity of the uroporphyrinogen III synthase. Allogeneic stem cell transplantation (Allo‐SCT) represents the only curative treatment and few allotransplanted cases have been reported in children but not in adults. Here we report for the first time the successful cure of a 46‐year old man with CEP with a 5‐year follow‐up after Allo‐SCT.
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hal-04753355 , version 1 (25-10-2024)

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Pierre Peterlin, Julia Bonnelye, Alice Garnier, Amandine Le Bourgeois, Thierry Guillaume, et al.. Successful treatment of congenital erythropoietic porphyria using matched unrelated hematopoietic stem cell transplantation in an adult: A case report. Skin Health and Disease, 2024, 4 (2), pp.e342. ⟨10.1002/ski2.342⟩. ⟨hal-04753355⟩
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