Trial reportThe Journal of allergy and clinical immunology2018
Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study.
Registry-linked trialOpen access · bronzeAbstract readClinical TrialMulticenter Study
In one paragraph
Trial report in The Journal of allergy and clinical immunology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05241444 (Phase 1 Study of Autologous CD4^LVFOXP3 in Participants With Immune Dysregulation Polyendocrinopathy Enteropathy X-linked), which is not on this map. Cited by 146 papers, 4 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
146citing papers in PubMed, 4 pooled it
22.8field-weighted citation impact, top 1% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Phase 1 Study of Autologous CD4^LVFOXP3 in Participants With Immune Dysregulation Polyendocrinopathy Enteropathy X-linked (IPEX) Syndrome
Who cites it
146 citing papers in PubMed, 4 syntheses or guidelines pooled it, 306 citations in OpenAlex.
- Indications for haematopoietic cell transplantation and CAR-T for haematological diseases, solid tumours and immune disorders: 2025 EBMT practice recommendations.Bone marrow transplantation · 2025Guideline
- Comprehensive evaluation of clinical phenotypes and pathogenic features in late-onset monogenic inflammatory bowel disease: a comparative study with infantile-onset cases.BMC gastroenterology · 2025Pooled it
- A Case Report of IPEX Syndrome with Neonatal Diabetes Mellitus and Congenital Hypothyroidism as the Initial Presentation, and a Systematic Review of neonatal IPEX.Journal of clinical immunology · 2023Pooled it
- Chromosomal Numerical Aberrations and Rare Copy Number Variation in Patients with Inflammatory Bowel Disease.Journal of Crohn's & colitis · 2023Pooled it
- Allogeneic HSCT for Autoimmune Diseases: A Retrospective Study From the EBMT ADWP, IEWP, and PDWP Working Parties.Frontiers in immunology · 2019Trial
- When to consider an inborn error of immunity: clues for physicians.Internal medicine journal · 2026Review
- Primary atopic disorders: Monogenic insights into immunity.Journal of human immunity · 2026Review
- Updated EBMT/ESID inborn errors working party guidelines for haematopoietic stem cell transplantation for inborn errors of immunity and metabolism.Bone marrow transplantation · 2026Review
- Review
- X-Linked immune dysregulation, polyendocrinopathy, and enteropathy (IPEX) syndrome with concurrent membranous and IgA nephropathy: a case report.BMC nephrology · 2026Article
- Refractory infantile IPEX with Treg-restricted FOXP3null expression caused by a novel variant inJournal of human immunity · 2026Article
- Human LFA-1 governs T cell immune surveillance of the skin.Science immunology · 2026Article
- Pediatric IPEX-Associated Dermatitis Responds To Dupilumab: Evidence from Skin Transcriptomics and Immune Profiling.Journal of clinical immunology · 2026Article
- An imbalance between CD80 and CD86 levels and CD4 regulatory T cell number and transendocytosis function exists in the liver in autoimmune hepatitis.Clinical and experimental immunology · 2026Article
- Case Report: Effective IL-4/IL-13 axis suppression and resolution of severe atopic dermatitis by dupilumab monotherapy in a patient with IPEX syndrome.Frontiers in immunology · 2026Article
- Inborn errors of regulatory T-cell differentiation and function.The Journal of allergy and clinical immunology · 2025Review
- Beyond the Classical Triad: Atypical Presentations and Regulatory T Cell Phenotyping in a Cohort of IPEX Patients.Journal of clinical immunology · 2025Article
- Cyclophosphamide post-haploidentical stem cell transplantation experience in an infant with IPEX syndromeBiomedica : revista del Instituto Nacional de Salud · 2025Article
- Monogenic inflammatory bowel disease: An unfolding enigma.World journal of clinical pediatrics · 2025Review
- Rheumatologic and Autoimmune Features of Inborn Errors of Immunity: Implications for Diagnosis and Management.Journal of human immunity · 2025Article
86 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
84 authors at 20 institutions in 16 countries.
Federica BarzaghiSan Raffaele Telethon Institute for Gene Therapy, Pediatric Immunohematology and Bone Marrow Transplantation Unit, Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele Scientific Institute, Milan, Italy.
Laura Cristina Amaya HernandezDivision of Stem Cell Transplantation and Regenerative Medicine, Department of Pediatrics, Stanford University School of Medicine, Stanford, Calif.
Benedicte NevenPaediatric Immunology, Haematology and Rheumatology Department, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Paris Descartes-Université Sorbonne Paris Cité, Institut Imagine, Paris, France.
Silvia RicciPediatric Immunology, "Anna Meyer" Children's Hospital, Florence, Italy.
Zeynep Yesim KucukBone Marrow Transplantation and Immune Deficiency, Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
Jack J BleesingBone Marrow Transplantation and Immune Deficiency, Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
Zohreh NademiInstitute of Cellular Medicine, Newcastle University and Children's Bone Marrow Transplant Unit, Great North Children's Hospital, Newcastle Upon Tyne, United Kingdom.
Mary Anne SlatterInstitute of Cellular Medicine, Newcastle University and Children's Bone Marrow Transplant Unit, Great North Children's Hospital, Newcastle Upon Tyne, United Kingdom.
Erlinda Rose UlloaPediatrics, Boston Children's Hospital, Boston, Mass.
Anna ShcherbinaDepartment of Immunology, Research and Clinical Center for Pediatric Hematology, Oncology and Immunology, Moscow, Russia.
Anna RoppeltDepartment of Immunology, Research and Clinical Center for Pediatric Hematology, Oncology and Immunology, Moscow, Russia.
Austen WorthDepartment of Immunology and Gene Therapy, Great Ormond Street Hospital, London, United Kingdom.
Juliana SilvaDepartment of Stem Cell Transplantation, Great Ormond Street Hospital, London, United Kingdom.
Alessandro AiutiSan Raffaele Telethon Institute for Gene Therapy, Pediatric Immunohematology and Bone Marrow Transplantation Unit, Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele Scientific Institute, Milan, Italy; Vita-Salute San Raffaele University, Milan, Italy.
Luis Murguia-FavelaDivision of Clinical Immunology and Allergy, Department of Pediatrics, Hospital for Sick Children, Toronto, Ontario, Canada.
Carsten SpeckmannDepartment of Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany; Center for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Magda Carneiro-SampaioDepartment of Pediatrics, Faculdade de Medicina da Universidade de São Paulo and Hospital Albert Einstein, São Paulo, Brazil.
Juliana Folloni FernandesStem Cell Transplantation Unit, Instituto da Criança, Faculdade de Medicina da Universidade de São Paulo and Hospital Albert Einstein, São Paulo, Brazil.
Safa BarisPediatric Allergy and Immunology, Marmara University, Istanbul, Turkey.
Ahmet OzenPediatric Allergy and Immunology, Marmara University, Istanbul, Turkey.
Elif Karakoc-AydinerPediatric Allergy and Immunology, Marmara University, Istanbul, Turkey.
Ayca KiykimPediatric Allergy and Immunology, Marmara University, Istanbul, Turkey.
Ansgar SchulzDepartment of Pediatrics, University Medical Center, Ulm, Germany.
Sandra SteinmannDepartment of Pediatrics, University Medical Center, Ulm, Germany.
Lucia Dora NotarangeloPediatric Onco-Hematology and Bone Marrow Transplant (BMT) Unit, Children's Hospital, Spedali Civili, Brescia, Italy.
Eleonora GambineriDepartment of Hematology-Oncology: Bone Marrow Transplant (BMT) Unit, "Anna Meyer" Children's Hospital, Florence, Italy.
Paolo LionettiGastroenterology Unit, University of Florence, Department of "NEUROFARBA": Section of Child's Health, "Anna Meyer" Children's Hospital, Florence, Italy.
William Thomas ShearerDepartment of Pediatrics, Section of Immunology Allergy Rheumatology, Baylor College of Medicine Texas Children's Hospital, Houston, Tex.
Lisa R ForbesDepartment of Pediatrics, Section of Immunology Allergy Rheumatology, Baylor College of Medicine Texas Children's Hospital, Houston, Tex.
Caridad MartinezDepartment of Pediatric Hematology and Oncology, Baylor College of Medicine Texas Children's Hospital, Houston, Tex.
Despina MoshousPaediatric Immunology, Haematology and Rheumatology Department, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Paris Descartes-Université Sorbonne Paris Cité, Institut Imagine, Paris, France.
Stephane BlanchePaediatric Immunology, Haematology and Rheumatology Department, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Paris Descartes-Université Sorbonne Paris Cité, Institut Imagine, Paris, France.
Alain FisherPaediatric Immunology, Haematology and Rheumatology Department, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Paris Descartes-Université Sorbonne Paris Cité, Institut Imagine, Paris, France.
Frank M RuemmelePediatric Gastroenterology unit, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Paris Descartes-Université Sorbonne Paris Cité, Paris, France.
Come TissandierPediatric Gastroenterology unit, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Paris Descartes-Université Sorbonne Paris Cité, Paris, France.
Marie Ouachee-ChardinHematology Unit, Robert Debré Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.
Frédéric Rieux-LaucatInstitut national de la santé et de la recherche médicale (INSERM) UMR 1163, Laboratory of Immunogenetics of Pediatric Autoimmune Disease, Paris, France.
Marina CavazzanaBiotherapy Department, Necker-Enfants Malades University Hospital, Paris Descartes -Université Sorbonne Paris Cité, Institut Imagine, Paris, France.
Waseem QasimGreat Ormond Street Institute of Child Health, University College London, London, United Kingdom.
Barbarella LucarelliDepartment of Pediatric Hematology-Oncology, University of Pavia, Istituto di Ricovero e Cura a Carattere Scientifico, Bambino Gesù Children's Hospital, Rome, Italy.
Michael H AlbertPediatric Hematology-Oncology, Dr. von Hauner Children's hospital, Ludwig-Maximilians Universität, Munich, Germany.
Ichiro KobayashiCenter for Pediatric Allergy and Rheumatology, KKR Sapporo Medical Center, Sapporo, Japan.
Laura AlonsoPaediatric Haematology and Oncology, Hospital Universitario Vall D'Hebron, Barcelona, Spain.
Cristina Diaz De HerediaPaediatric Haematology and Oncology, Hospital Universitario Vall D'Hebron, Barcelona, Spain.
Hirokazu KaneganePediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan.
Anita LawitschkaSt. Anna Children's Hospital, Medical University Vienna, Vienna, Austria.
Jong Jin SeoPediatrics, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea.
Marta Gonzalez-VicentHematopoietic Stem Cell Transplantation Unit, Pediatric Department, Children's University Hospital Niño Jesús, Madrid, Spain.
Miguel Angel DiazHematopoietic Stem Cell Transplantation Unit, Pediatric Department, Children's University Hospital Niño Jesús, Madrid, Spain.
Rakesh Kumar GoyalDivision of Blood and Marrow Transplantation and Cellular Therapies, Department of Pediatrics, Children's Hospital of Pittsburgh of University of Pittsburgh Medical Center, Pittsburgh, Pa.
Martin G SauerDepartment of Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany.
Akif YesilipekPediatric Stem Cell Transplantation Unit, Medicalpark Hospital Goztepe and Antalya Hospitals, Antalya, Turkey.
Minsoo KimPediatric Allergy, Immunology and Rheumatology, Columbia Medical Center, New York, NY.
Yesim Yilmaz-DemirdagPediatric Allergy, Immunology and Rheumatology, Columbia Medical Center, New York, NY.
Monica BhatiaPediatric Hematology, Oncology and Stem Cell Transplantation, Columbia Medical Center, New York, NY.
Julie KhlevnerPediatric Gastroenterology, Hepatology, and Nutrition, Columbia Medical Center, New York, NY.
Erick J Richmond PadillaPediatric Endocrinology, National Children's Hospital, San Jose, Israel.
Silvana MartinoDivision of Immunology and Rheumatology, Department of Paediatric Infectious Diseases, University of Turin, Regina Margherita Children's Hospital, Turin, Italy.
Davide MontinDivision of Immunology and Rheumatology, Department of Paediatric Infectious Diseases, University of Turin, Regina Margherita Children's Hospital, Turin, Italy.
Olaf NethDepartment of Paediatric Infectious Diseases, Rheumatology and Immunodeficiency, Instituto de Biomedicina de Sevilla/CSIC/Universidad de Sevilla, Seville, Spain.
Agueda Molinos-QuintanaDepartment of Pediatric Hematology, Instituto de Biomedicina de Sevilla/CSIC/Universidad de Sevilla, Seville, Spain.
Justo Valverde-FernandezDepartment of Paediatirc Gastroenterology, Hospital Universitario Virgen del Rocío, Instituto de Biomedicina de Sevilla/Unite Mixte de Recherche (UMR) or Mixed Unit of Research Consejo Superior de Investigaciones Científicas (CSIC)/Universidad de Sevilla, Seville, Spain.
Arnon BroidesPediatric Immunology Clinic, Soroka University Medical Center, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel.
Vered PinskPediatric Ambulatory Care Unit, Soroka University Medical Center, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel.
Antje BallaufDepartment of Pediatrics, Helios Children's Hospital, Krefeld, Germany.
Filomeen HaerynckDepartment of Pediatrics, Center for Primary Immunodeficiencies, Ghent University Hospital, Ghent, Belgium.
Victoria BordonDepartment of Pediatrics, Center for Primary Immunodeficiencies, Ghent University Hospital, Ghent, Belgium.
Catharina DhoogeDepartment of Pediatrics, Center for Primary Immunodeficiencies, Ghent University Hospital, Ghent, Belgium.
Maria Laura Garcia-LloretDivision of Pediatric Allergy, Immunology and Rheumatology, University of California-Los Angeles School of Medicine, Los Angeles, Calif.
Robbert G BrediusPediatric Immunology, Infections and Stem Cell Transplantation (SCT), Leiden University Medical Center, Leiden, The Netherlands.
Krzysztof KałwakDepartment of Pediatric Hematology, Oncology and Bone Marrow Transplant (BMT) Unit, Wroclaw Medical University, Wroclaw, Poland.
Elie HaddadDepartment of Pediatrics, Saint Justine Hospital, University of Montreal, Montreal, Quebec, Canada.
Markus Gerhard SeidelDivision of Pediatric Hematology-Oncology, Research Unit Pediatric Hematology and Immunology, Medical University Graz, Graz, Austria.
Gregor DuckersDepartment of Pediatrics, Helios Children's Hospital, Krefeld, Germany.
Sung-Yun PaiPediatrics, Boston Children's Hospital, Boston, Mass; Pediatric Oncology, Dana-Farber Cancer Institute, Boston, Mass.
Christopher C DvorakPediatric Allergy, Immunology and Bone Marrow Transplant, University of California-San Francisco Benioff Children's Hospital, San Francisco, Calif.
Stephan EhlCenter for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Franco LocatelliDepartment of Pediatric Hematology-Oncology, University of Pavia, Istituto di Ricovero e Cura a Carattere Scientifico, Bambino Gesù Children's Hospital, Rome, Italy.
Frederick GoldmanPediatrics, University of Alabama, Birmingham, Ala.
Andrew Richard GenneryInstitute of Cellular Medicine, Newcastle University and Children's Bone Marrow Transplant Unit, Great North Children's Hospital, Newcastle Upon Tyne, United Kingdom.
Mort J CowanPediatric Allergy, Immunology and Bone Marrow Transplant, University of California-San Francisco Benioff Children's Hospital, San Francisco, Calif.
Maria-Grazia RoncaroloDivision of Stem Cell Transplantation and Regenerative Medicine, Department of Pediatrics, Stanford University School of Medicine, Stanford, Calif.
Rosa BacchettaDivision of Stem Cell Transplantation and Regenerative Medicine, Department of Pediatrics, Stanford University School of Medicine, Stanford, Calif. Electronic address: roasb@stanford.edu.
Primary Immune Deficiency Treatment Consortium (PIDTC) and the Inborn Errors Working Party (IEWP) of the European Society for Blood and Marrow Transplantation (EBMT)
Columbia University Irving Medical Center · USMarmara University · TRGhent University Hospital · BEMeyer Children's Hospital · ITStanford University · USBaylor College of Medicine · USBen-Gurion University of the Negev · ILBoston Children's Hospital · USCincinnati Children's Hospital Medical Center · USGreat Ormond Street Hospital · GBHelios Klinikum Krefeld · DEHospital Infantil Universitario Niño Jesús · ESNewcastle University · GBSorbonne Paris Cité · FRSorbonne Université · FRUniversidad de Sevilla · ESUniversité Paris Cité · FRUniversity of California, San Francisco · USUniversity of Pavia · ITUniversity of Turin · IT
Funding
Training of Clinical Investigators in Primary Immune DeficienciesU54AI082973 · NIAID · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI MALECH, HARRY · 2009 to 2023
$23.3MPrimary Immune Deficiency Treatment Consortium Annual Scientific MeetingR13AI094943 · NIAID · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI PUCK, JENNIFER M. · 2011 to 2025
$239kDepartment of Health RP-2014-05-007NIAID NIH HHS R13 AI094943NIAID NIH HHS U54 AI082973
Abstract
backgroundImmunodysregulation 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.
objectiveThis analysis sought to evaluate disease onset, progression, and long-term outcome of the 2 main treatments in long-term IPEX survivors.
methodsClinical 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.
resultsWe 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.
conclusionsPatients 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.
Indexed as
DiarrheaForkhead Transcription FactorsGenetic Diseases, X-LinkedHematopoietic Stem Cell TransplantationImmunosuppression TherapyMutationAdolescentAdultAllograftsChildChild, PreschoolDiabetes Mellitus, Type 1Disease-Free SurvivalFemaleFollow-Up StudiesHumansForkhead Transcription FactorsFOXP3 protein, humanenteropathyFOXP3genetic autoimmunityhematopoietic stem cell transplantationimmunosuppressionIPEXneonatal diabetesprimary immune deficiencyrapamycinTreg cells
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Registered trials
NCT05241444ClinicalTrials.gov
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.