Allogeneic stem cell transplantation-A curative treatment for paroxysmal nocturnal hemoglobinuria with PIGT mutation: A case report.
Fiche publication
Date publication
juin 2022
Journal
World journal of clinical cases
Auteurs
Membres identifiés du Cancéropôle Est :
Pr DE CARVALHO BITTENCOURT Marcelo, Pr RUBIO Marie Thérèse , Dr D'AVENI-PINEY Maud
Tous les auteurs :
Schenone L, Notarantonio AB, Latger-Cannard V, Fremeaux-Bacchi V, De Carvalho-Bittencourt M, Rubio MT, Muller M, D'Aveni M
Lien Pubmed
Résumé
Patients with paroxysmal nocturnal hemoglobinuria (PNH) have a clonal population of blood cells deficient in glycosylphosphatidylinositol-anchored (GPI-anchored) proteins, most of the time resulting from a mutation in the X-linked gene PIGA. We report a patient with PNH resulting from a rare biallelic PIGT mutation on chromosome 20.
Mots clés
Allogeneic stem cell transplantation, Autoinflammatory symptoms, Case report, PIGT mutation, Paroxysmal nocturnal hemoglobinuria, Recurrent meningitidis
Référence
World J Clin Cases. 2022 06 16;10(17):5702-5707