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Title: Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study.
Authors: Barzaghi, Federica
Amaya Hernandez, Laura Cristina
Neven, Benedicte
Ricci, Silvia
Kucuk, Zeynep Yesim
Bleesing, Jack J
Nademi, Zohreh
Slatter, Mary Anne
Ulloa, Erlinda Rose
Shcherbina, Anna
Roppelt, Anna
Worth, Austen
Silva, Juliana
Aiuti, Alessandro
Murguia-Favela, Luis
Speckmann, Carsten
Carneiro-Sampaio, Magda
Fernandes, Juliana Folloni
Baris, Safa
Ozen, Ahmet
Karakoc-Aydiner, Elif
Kiykim, Ayca
Schulz, Ansgar
Steinmann, Sandra
Notarangelo, Lucia Dora
Gambineri, Eleonora
Lionetti, Paolo
Shearer, William Thomas
Forbes, Lisa R
Martinez, Caridad
Moshous, Despina
Blanche, Stephane
Fisher, Alain
Ruemmele, Frank M
Tissandier, Come
Ouachee-Chardin, Marie
Rieux-Laucat, Frédéric
Cavazzana, Marina
Qasim, Waseem
Lucarelli, Barbarella
Albert, Michael H
Kobayashi, Ichiro
Alonso, Laura
Diaz De Heredia, Cristina
Kanegane, Hirokazu
Lawitschka, Anita
Seo, Jong Jin
Gonzalez-Vicent, Marta
Diaz, Miguel Angel
Goyal, Rakesh Kumar
Sauer, Martin G
Yesilipek, Akif
Kim, Minsoo
Yilmaz-Demirdag, Yesim
Bhatia, Monica
Khlevner, Julie
Richmond Padilla, Erick J
Martino, Silvana
Montin, Davide
Neth, Olaf
Molinos-Quintana, Agueda
Valverde-Fernandez, Justo
Broides, Arnon
Pinsk, Vered
Ballauf, Antje
Haerynck, Filomeen
Bordon, Victoria
Dhooge, Catharina
Garcia-Lloret, Maria Laura
Bredius, Robbert G
Kałwak, Krzysztof
Haddad, Elie
Seidel, Markus Gerhard
Duckers, Gregor
Pai, Sung-Yun
Dvorak, Christopher C
Ehl, Stephan
Locatelli, Franco
Goldman, Frederick
Gennery, Andrew Richard
Cowan, Mort J
Roncarolo, Maria-Grazia
Bacchetta, Rosa
Primary Immune Deficiency Treatment Consortium (PIDTC) and the Inborn Errors Working Party (IEWP) of the European Society for Blood and Marrow Transplantation (EBMT)
Keywords: FOXP3;IPEX;Treg cells;enteropathy;genetic autoimmunity;hematopoietic stem cell transplantation;immunosuppression;neonatal diabetes;primary immune deficiency;rapamycin
metadata.dc.subject.mesh: Adolescent
Child, Preschool
Diabetes Mellitus, Type 1
Disease-Free Survival
Follow-Up Studies
Forkhead Transcription Factors
Genetic Diseases, X-Linked
Hematopoietic Stem Cell Transplantation
Immune System Diseases
Immunosuppression Therapy
Retrospective Studies
Survival Rate
Issue Date: 11-Dec-2017
Abstract: 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.
metadata.dc.identifier.doi: 10.1016/j.jaci.2017.10.041
Appears in Collections:Producción 2020

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