Allogeneic stem cell transplantation-A curative treatment for paroxysmal nocturnal hemoglobinuria with PIGT mutation: A case report.

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

https://www.ncbi.nlm.nih.gov/pubmed/35979111

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