RT Journal Article
T1 Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study.
A1 Barzaghi, Federica
A1 Amaya Hernandez, Laura Cristina
A1 Neven, Benedicte
A1 Ricci, Silvia
A1 Kucuk, Zeynep Yesim
A1 Bleesing, Jack J
A1 Nademi, Zohreh
A1 Slatter, Mary Anne
A1 Ulloa, Erlinda Rose
A1 Shcherbina, Anna
A1 Roppelt, Anna
A1 Worth, Austen
A1 Silva, Juliana
A1 Aiuti, Alessandro
A1 Murguia-Favela, Luis
A1 Speckmann, Carsten
A1 Carneiro-Sampaio, Magda
A1 Fernandes, Juliana Folloni
A1 Baris, Safa
A1 Ozen, Ahmet
A1 Karakoc-Aydiner, Elif
A1 Kiykim, Ayca
A1 Schulz, Ansgar
A1 Steinmann, Sandra
A1 Notarangelo, Lucia Dora
A1 Gambineri, Eleonora
A1 Lionetti, Paolo
A1 Shearer, William Thomas
A1 Forbes, Lisa R
A1 Martinez, Caridad
A1 Moshous, Despina
A1 Blanche, Stephane
A1 Fisher, Alain
A1 Ruemmele, Frank M
A1 Tissandier, Come
A1 Ouachee-Chardin, Marie
A1 Rieux-Laucat, Frédéric
A1 Cavazzana, Marina
A1 Qasim, Waseem
A1 Lucarelli, Barbarella
A1 Albert, Michael H
A1 Kobayashi, Ichiro
A1 Alonso, Laura
A1 Diaz De Heredia, Cristina
A1 Kanegane, Hirokazu
A1 Lawitschka, Anita
A1 Seo, Jong Jin
A1 Gonzalez-Vicent, Marta
A1 Diaz, Miguel Angel
A1 Goyal, Rakesh Kumar
A1 Sauer, Martin G
A1 Yesilipek, Akif
A1 Kim, Minsoo
A1 Yilmaz-Demirdag, Yesim
A1 Bhatia, Monica
A1 Khlevner, Julie
A1 Richmond Padilla, Erick J
A1 Martino, Silvana
A1 Montin, Davide
A1 Neth, Olaf
A1 Molinos-Quintana, Agueda
A1 Valverde-Fernandez, Justo
A1 Broides, Arnon
A1 Pinsk, Vered
A1 Ballauf, Antje
A1 Haerynck, Filomeen
A1 Bordon, Victoria
A1 Dhooge, Catharina
A1 Garcia-Lloret, Maria Laura
A1 Bredius, Robbert G
A1 Kałwak, Krzysztof
A1 Haddad, Elie
A1 Seidel, Markus Gerhard
A1 Duckers, Gregor
A1 Pai, Sung-Yun
A1 Dvorak, Christopher C
A1 Ehl, Stephan
A1 Locatelli, Franco
A1 Goldman, Frederick
A1 Gennery, Andrew Richard
A1 Cowan, Mort J
A1 Roncarolo, Maria-Grazia
A1 Bacchetta, Rosa
A1 Primary Immune Deficiency Treatment Consortium (PIDTC) and the Inborn Errors Working Party (IEWP) of the European Society for Blood and Marrow Transplantation (EBMT), 
K1 FOXP3
K1 IPEX
K1 Treg cells
K1 enteropathy
K1 genetic autoimmunity
K1 hematopoietic stem cell transplantation
K1 immunosuppression
K1 neonatal diabetes
K1 primary immune deficiency
K1 rapamycin
AB Immunodysregulation polyendocrinopathy enteropathy x-linked (IPEX) syndrome is a monogenic autoimmune disease caused by FOXP3 mutations. Because it is a rare disease, the natural history and response to treatments, including allogeneic hematopoietic stem cell transplantation (HSCT) and immunosuppression (IS), have not been thoroughly examined. This analysis sought to evaluate disease onset, progression, and long-term outcome of the 2 main treatments in long-term IPEX survivors. Clinical histories of 96 patients with a genetically proven IPEX syndrome were collected from 38 institutions worldwide and retrospectively analyzed. To investigate possible factors suitable to predict the outcome, an organ involvement (OI) scoring system was developed. We confirm neonatal onset with enteropathy, type 1 diabetes, and eczema. In addition, we found less common manifestations in delayed onset patients or during disease evolution. There is no correlation between the site of mutation and the disease course or outcome, and the same genotype can present with variable phenotypes. HSCT patients (n = 58) had a median follow-up of 2.7 years (range, 1 week-15 years). Patients receiving chronic IS (n = 34) had a median follow-up of 4 years (range, 2 months-25 years). The overall survival after HSCT was 73.2% (95% CI, 59.4-83.0) and after IS was 65.1% (95% CI, 62.8-95.8). The pretreatment OI score was the only significant predictor of overall survival after transplant (P = .035) but not under IS. Patients receiving chronic IS were hampered by disease recurrence or complications, impacting long-term disease-free survival. When performed in patients with a low OI score, HSCT resulted in disease resolution with better quality of life, independent of age, donor source, or conditioning regimen.
YR 2017
FD 2017-12-11
LK http://hdl.handle.net/10668/11909
UL http://hdl.handle.net/10668/11909
LA en
DS RISalud
RD Apr 11, 2025