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Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study.

ABSTRACT: BACKGROUND: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. OBJECTIVE:This analysis sought to evaluate disease onset, progression, and long-term outcome of the 2 main treatments in long-term IPEX survivors. METHODS: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. RESULTS: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. CONCLUSIONS: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.

SUBMITTER: Barzaghi F

PROVIDER: S-EPMC6050203 | biostudies-literature | 2018 Mar

REPOSITORIES: biostudies-literature

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Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study.

Barzaghi Federica F Amaya Hernandez Laura Cristina LC Neven Benedicte B Ricci Silvia S Kucuk Zeynep Yesim ZY Bleesing Jack J JJ Nademi Zohreh Z Slatter Mary Anne MA Ulloa Erlinda Rose ER Shcherbina Anna A Roppelt Anna A Worth Austen A Silva Juliana J Aiuti Alessandro A Murguia-Favela Luis L Speckmann Carsten C Carneiro-Sampaio Magda M Fernandes Juliana Folloni JF Baris Safa S Ozen Ahmet A Karakoc-Aydiner Elif E Kiykim Ayca A Schulz Ansgar A Steinmann Sandra S Notarangelo Lucia Dora LD Gambineri Eleonora E Lionetti Paolo P Shearer William Thomas WT Forbes Lisa R LR Martinez Caridad C Moshous Despina D Blanche Stephane S Fisher Alain A Ruemmele Frank M FM Tissandier Come C Ouachee-Chardin Marie M Rieux-Laucat Frédéric F Cavazzana Marina M Qasim Waseem W Lucarelli Barbarella B Albert Michael H MH Kobayashi Ichiro I Alonso Laura L Diaz De Heredia Cristina C Kanegane Hirokazu H Lawitschka Anita A Seo Jong Jin JJ Gonzalez-Vicent Marta M Diaz Miguel Angel MA Goyal Rakesh Kumar RK Sauer Martin G MG Yesilipek Akif A Kim Minsoo M Yilmaz-Demirdag Yesim Y Bhatia Monica M Khlevner Julie J Richmond Padilla Erick J EJ Martino Silvana S Montin Davide D Neth Olaf O Molinos-Quintana Agueda A Valverde-Fernandez Justo J Broides Arnon A Pinsk Vered V Ballauf Antje A Haerynck Filomeen F Bordon Victoria V Dhooge Catharina C Garcia-Lloret Maria Laura ML Bredius Robbert G RG Kałwak Krzysztof K Haddad Elie E Seidel Markus Gerhard MG Duckers Gregor G Pai Sung-Yun SY Dvorak Christopher C CC Ehl Stephan S Locatelli Franco F Goldman Frederick F Gennery Andrew Richard AR Cowan Mort J MJ Roncarolo Maria-Grazia MG Bacchetta Rosa R

The Journal of allergy and clinical immunology 20171211 3

<h4>Background</h4>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.<h4>Objective</h4>This analysis sought to evaluate disease onset, progression, and long-term outcome of the 2 main treatments in long-te ...[more]

PMID: 29241729

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Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study.

Publications

Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study.

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