Copyright
©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Jun 16, 2022; 10(17): 5702-5707
Published online Jun 16, 2022. doi: 10.12998/wjcc.v10.i17.5702
Published online Jun 16, 2022. doi: 10.12998/wjcc.v10.i17.5702
Allogeneic stem cell transplantation-A curative treatment for paroxysmal nocturnal hemoglobinuria with PIGT mutation: A case report
Laurence Schenone, Marie-Thérèse Rubio, Maud D'Aveni, Department of Hematology, CHRU de Nancy, Nancy F-54000, France
Laurence Schenone, Marc Muller, Genetic Laboratory, CHRU de Nancy, Nancy F-54000, France
Anne-Béatrice Notarantonio, Maud D'Aveni, IMoPA, CNRS 7365, University of Lorraine, Nancy F-54000, France
Véronique Latger-Cannard, Hematology Laboratory, Cytometry Platform, CHRU de Nancy, Nancy F-54000, France
Veronique Fremeaux-Bacchi, Immunology Laboratory, Hôpital Européen George Pompidou, Paris 75015, France
Marcelo De Carvalho-Bittencourt, Immunology Laboratory, CHRU de Nancy, Nancy F-54000, France
Author contributions: D'Aveni M provided the concept and design and reviewed and revised the manuscript; Schenone L wrote the manuscript; Schenone L, Notarantonio AB, Latger-Cannard V, Fremeaux-Bacchi V, De Carvalho-Bittencourt M and Muller M performed the analysis; Detrait M, Rubio MT, D’Aveni M took care of the patient; Rubio MT and Muller M revised the manuscript.
Informed consent statement: Informed written consent was obtained from the patient.
Conflict-of-interest statement: The authors declare no competing financial interests.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Maud D'Aveni, MD, PhD, Doctor, Department of Hematology, CHRU Nancy, Allée du Morvan, Nancy F-54000, France. m.daveni-piney@chru-nancy.fr
Received: November 16, 2021
Peer-review started: November 16, 2021
First decision: February 14, 2022
Revised: February 24, 2022
Accepted: April 2, 2022
Article in press: April 2, 2022
Published online: June 16, 2022
Processing time: 204 Days and 17.4 Hours
Peer-review started: November 16, 2021
First decision: February 14, 2022
Revised: February 24, 2022
Accepted: April 2, 2022
Article in press: April 2, 2022
Published online: June 16, 2022
Processing time: 204 Days and 17.4 Hours
Core Tip
Core Tip: Paroxysmal nocturnal hemoglobinuria with autoinflammatory symptoms has been described in 4 cases with PIG-T mutations (PIGT-PNH entity). We report the fifth case in the world. For the first time we treated him with an allogeneic hematopoietic stem cell transplantation (allo-SCT) after repeated infusions of eculizumab to decrease autoinflammatory symptoms. Allo-SCT was performed with a mismatched unrelated donor and no excess of alloreactivity or toxicity was observed. We think that this new case report with a review of literature will help physicians to have a focus on PIGT-PNH. It suggests that allogeneic SCT should be considered as a curative treatment option for this disease.