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

Autor: Barzaghi, F., Hernandez, L.C.A., Neven, B., Ricci, S., Kucuk, Z.Y., Bleesing, J.J., Nademi, Z., Slatter, M.A., Ulloa, E.R., Shcherbina, A., Roppelt, A., Worth, A., Silva, J., Aiuti, A., Murguia-Favela, L., Speckmann, C., Carneiro-Sampaio, M., Fernandes, J.F., Baris, S., Ozen, A., Karakoc-Aydiner, E., Kiykim, A., Schulz, A., Steinmann, S., Notarangelo, L.D., Gambineri, E., Lionetti, P., Shearer, W.T., Forbes, L.R., Martinez, C., Moshous, D., Blanche, S., Fisher, A., Ruemmele, F.M., Tissandier, C., Ouachee-Chardin, M., Rieux-Laucat, F., Cavazzana, M., Qasim, W., Lucarelli, B., Albert, M.H., Kobayashi, I., Alonso, L., Heredia, C.D. de, Kanegane, H., Lawitschka, A., Seo, J.J., Gonzalez-Vicent, M., Diaz, M.A., Goyal, R.K., Sauer, M.G., Yesilipek, A., Kim, M., Yilmaz-Demirdag, Y., Bhatia, M., Khlevner, J., Padilla, E.J.R., Martino, S., Montin, D., Neth, O., Molinos-Quintana, A., Valverde-Fernandez, J., Broides, A., Pinsk, V., Ballauf, A., Haerynck, F., Bordon, V., Dhooge, C., Garcia-Lloret, M.L., Bredius, R.G., Kawak, K., Haddad, E., Seidel, M.G., Duckers, G., Pai, S.Y., Dvorak, C.C., Ehl, S., Locatelli, F., Goldman, F., Gennery, A.R., Cowan, M.J., Roncarolo, M.G., Bacchetta, R., PIDTC, IEWP, European Soc Blood Marrow

Publikováno v: The Journal of allergy and clinical immunology, vol 141, iss 3
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
Journal of Allergy and Clinical Immunology
Journal of Allergy and Clinical Immunology, 141(3), 1036
The Journal of allergy and clinical immunology
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid

Background Immunodysregulation polyendocrinopathy enteropathy x-linked(IPEX) syndromeis a monogenic autoimmune disease caused by FOXP3 mutations. Because it is a rare disease, the natural history and response to treatments, including allogeneic hemat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52a22a1221b397120fbc83bc4587d509
https://escholarship.org/uc/item/56g0d17d

The European internet-based patient and research database for primary immunodeficiencies: update 2011

Autor: Gathmann B., Binder N., Ehl S., Kindle G., Mahlaoui N., Devergnes N., Brosselin P., Sanal O., Yegin O., Kutukculer N., Kilic S. S., Barlan I. B., Reisly I., Caracseghi F., Santos J. L., Llobet P., Carbone J., Granado L. I. G., Sanchez Ramon S., Tricas L., Matamoros N., Exley A., Kumaratne D., Alwood Z., Grimbacher B., Longhurst H., Knerr V., Bangs C., Boardman B., Tierney P., Chapel H., Notarangelo L. D., Plebani A., PIGNATA, CLAUDIO, Nickel R., Schauer U., Spath B., Caiser P., Roisler J., Bieneman K., Line R., Schubert R., El Helou S., Ritterbusch H., Goldacker S., Duckers G., Fabhauer M., Borte M., Notheis G., Belohradsky B. H., Sollinger F., Classen C. F., Apel K., Steinmann S., Muglich C., Szaflarska A., Bernatowska E., Heropolitansca E., Kuijpers T. W., van Beem R., Galal N. M., Reda S., Farber C. L., Meyts I., Velbri S., Kanariou M., Farmaki E., Papadopoulou Alataki E., Trachana M., Richter D., Blaziene A., Seidel M., Marques L., Feighery C., Cucuruz M., Konoplyannikova J., Paschenko O., Shcherbina A., Berglof A., Jardefors H., Wargstrom P., Brodszki N., Cantoni N., Dupenthaler A., Fahrni G., Hoernes M., Sahbacher U., Pasic S., Ciznar P., Jeverica A. K., Litzman J., Hlavackova E., Savchak I., Farkas H., Marodi L.

In order to build a common data pool and estimate the disease burden of primary immunodeficiencies (PID) in Europe, the European Society for Immunodeficiencies (ESID) has developed an internet-based database for clinical and research data on patients

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3730::fb433d2a6b74d41a4ba5638274f5db59
http://hdl.handle.net/11588/461322

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

Autor: Barzaghi F; San 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., Amaya Hernandez LC; Division of Stem Cell Transplantation and Regenerative Medicine, Department of Pediatrics, Stanford University School of Medicine, Stanford, Calif., Neven B; Paediatric 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., Ricci S; Pediatric Immunology, 'Anna Meyer' Children's Hospital, Florence, Italy., Kucuk ZY; Bone Marrow Transplantation and Immune Deficiency, Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio., Bleesing JJ; Bone Marrow Transplantation and Immune Deficiency, Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio., Nademi Z; Institute of Cellular Medicine, Newcastle University and Children's Bone Marrow Transplant Unit, Great North Children's Hospital, Newcastle Upon Tyne, United Kingdom., Slatter MA; Institute of Cellular Medicine, Newcastle University and Children's Bone Marrow Transplant Unit, Great North Children's Hospital, Newcastle Upon Tyne, United Kingdom., Ulloa ER; Pediatrics, Boston Children's Hospital, Boston, Mass., Shcherbina A; Department of Immunology, Research and Clinical Center for Pediatric Hematology, Oncology and Immunology, Moscow, Russia., Roppelt A; Department of Immunology, Research and Clinical Center for Pediatric Hematology, Oncology and Immunology, Moscow, Russia., Worth A; Department of Immunology and Gene Therapy, Great Ormond Street Hospital, London, United Kingdom., Silva J; Department of Stem Cell Transplantation, Great Ormond Street Hospital, London, United Kingdom., Aiuti A; San 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., Murguia-Favela L; Division of Clinical Immunology and Allergy, Department of Pediatrics, Hospital for Sick Children, Toronto, Ontario, Canada., Speckmann C; Department of Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany; Center for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Carneiro-Sampaio M; Department of Pediatrics, Faculdade de Medicina da Universidade de São Paulo and Hospital Albert Einstein, São Paulo, Brazil., Fernandes JF; Stem Cell Transplantation Unit, Instituto da Criança, Faculdade de Medicina da Universidade de São Paulo and Hospital Albert Einstein, São Paulo, Brazil., Baris S; Pediatric Allergy and Immunology, Marmara University, Istanbul, Turkey., Ozen A; Pediatric Allergy and Immunology, Marmara University, Istanbul, Turkey., Karakoc-Aydiner E; Pediatric Allergy and Immunology, Marmara University, Istanbul, Turkey., Kiykim A; Pediatric Allergy and Immunology, Marmara University, Istanbul, Turkey., Schulz A; Department of Pediatrics, University Medical Center, Ulm, Germany., Steinmann S; Department of Pediatrics, University Medical Center, Ulm, Germany., Notarangelo LD; Pediatric Onco-Hematology and Bone Marrow Transplant (BMT) Unit, Children's Hospital, Spedali Civili, Brescia, Italy., Gambineri E; Department of Hematology-Oncology: Bone Marrow Transplant (BMT) Unit, 'Anna Meyer' Children's Hospital, Florence, Italy., Lionetti P; Gastroenterology Unit, University of Florence, Department of 'NEUROFARBA': Section of Child's Health, 'Anna Meyer' Children's Hospital, Florence, Italy., Shearer WT; Department of Pediatrics, Section of Immunology Allergy Rheumatology, Baylor College of Medicine Texas Children's Hospital, Houston, Tex., Forbes LR; Department of Pediatrics, Section of Immunology Allergy Rheumatology, Baylor College of Medicine Texas Children's Hospital, Houston, Tex., Martinez C; Department of Pediatric Hematology and Oncology, Baylor College of Medicine Texas Children's Hospital, Houston, Tex., Moshous D; Paediatric 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., Blanche S; Paediatric 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., Fisher A; Paediatric 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., Ruemmele FM; Pediatric Gastroenterology unit, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Paris Descartes-Université Sorbonne Paris Cité, Paris, France., Tissandier C; Pediatric Gastroenterology unit, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Paris Descartes-Université Sorbonne Paris Cité, Paris, France., Ouachee-Chardin M; Hematology Unit, Robert Debré Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France., Rieux-Laucat F; Institut national de la santé et de la recherche médicale (INSERM) UMR 1163, Laboratory of Immunogenetics of Pediatric Autoimmune Disease, Paris, France., Cavazzana M; Biotherapy Department, Necker-Enfants Malades University Hospital, Paris Descartes -Université Sorbonne Paris Cité, Institut Imagine, Paris, France., Qasim W; Great Ormond Street Institute of Child Health, University College London, London, United Kingdom., Lucarelli B; Department of Pediatric Hematology-Oncology, University of Pavia, Istituto di Ricovero e Cura a Carattere Scientifico, Bambino Gesù Children's Hospital, Rome, Italy., Albert MH; Pediatric Hematology-Oncology, Dr. von Hauner Children's hospital, Ludwig-Maximilians Universität, Munich, Germany., Kobayashi I; Center for Pediatric Allergy and Rheumatology, KKR Sapporo Medical Center, Sapporo, Japan., Alonso L; Paediatric Haematology and Oncology, Hospital Universitario Vall D'Hebron, Barcelona, Spain., Diaz De Heredia C; Paediatric Haematology and Oncology, Hospital Universitario Vall D'Hebron, Barcelona, Spain., Kanegane H; Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan., Lawitschka A; St. Anna Children's Hospital, Medical University Vienna, Vienna, Austria., Seo JJ; Pediatrics, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea., Gonzalez-Vicent M; Hematopoietic Stem Cell Transplantation Unit, Pediatric Department, Children's University Hospital Niño Jesús, Madrid, Spain., Diaz MA; Hematopoietic Stem Cell Transplantation Unit, Pediatric Department, Children's University Hospital Niño Jesús, Madrid, Spain., Goyal RK; Division of Blood and Marrow Transplantation and Cellular Therapies, Department of Pediatrics, Children's Hospital of Pittsburgh of University of Pittsburgh Medical Center, Pittsburgh, Pa., Sauer MG; Department of Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany., Yesilipek A; Pediatric Stem Cell Transplantation Unit, Medicalpark Hospital Goztepe and Antalya Hospitals, Antalya, Turkey., Kim M; Pediatric Allergy, Immunology and Rheumatology, Columbia Medical Center, New York, NY., Yilmaz-Demirdag Y; Pediatric Allergy, Immunology and Rheumatology, Columbia Medical Center, New York, NY., Bhatia M; Pediatric Hematology, Oncology and Stem Cell Transplantation, Columbia Medical Center, New York, NY., Khlevner J; Pediatric Gastroenterology, Hepatology, and Nutrition, Columbia Medical Center, New York, NY., Richmond Padilla EJ; Pediatric Endocrinology, National Children's Hospital, San Jose, Israel., Martino S; Division of Immunology and Rheumatology, Department of Paediatric Infectious Diseases, University of Turin, Regina Margherita Children's Hospital, Turin, Italy., Montin D; Division of Immunology and Rheumatology, Department of Paediatric Infectious Diseases, University of Turin, Regina Margherita Children's Hospital, Turin, Italy., Neth O; Department of Paediatric Infectious Diseases, Rheumatology and Immunodeficiency, Instituto de Biomedicina de Sevilla/CSIC/Universidad de Sevilla, Seville, Spain., Molinos-Quintana A; Department of Pediatric Hematology, Instituto de Biomedicina de Sevilla/CSIC/Universidad de Sevilla, Seville, Spain., Valverde-Fernandez J; Department 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., Broides A; Pediatric Immunology Clinic, Soroka University Medical Center, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel., Pinsk V; Pediatric Ambulatory Care Unit, Soroka University Medical Center, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel., Ballauf A; Department of Pediatrics, Helios Children's Hospital, Krefeld, Germany., Haerynck F; Department of Pediatrics, Center for Primary Immunodeficiencies, Ghent University Hospital, Ghent, Belgium., Bordon V; Department of Pediatrics, Center for Primary Immunodeficiencies, Ghent University Hospital, Ghent, Belgium., Dhooge C; Department of Pediatrics, Center for Primary Immunodeficiencies, Ghent University Hospital, Ghent, Belgium., Garcia-Lloret ML; Division of Pediatric Allergy, Immunology and Rheumatology, University of California-Los Angeles School of Medicine, Los Angeles, Calif., Bredius RG; Pediatric Immunology, Infections and Stem Cell Transplantation (SCT), Leiden University Medical Center, Leiden, The Netherlands., Kałwak K; Department of Pediatric Hematology, Oncology and Bone Marrow Transplant (BMT) Unit, Wroclaw Medical University, Wroclaw, Poland., Haddad E; Department of Pediatrics, Saint Justine Hospital, University of Montreal, Montreal, Quebec, Canada., Seidel MG; Division of Pediatric Hematology-Oncology, Research Unit Pediatric Hematology and Immunology, Medical University Graz, Graz, Austria., Duckers G; Department of Pediatrics, Helios Children's Hospital, Krefeld, Germany., Pai SY; Pediatrics, Boston Children's Hospital, Boston, Mass; Pediatric Oncology, Dana-Farber Cancer Institute, Boston, Mass., Dvorak CC; Pediatric Allergy, Immunology and Bone Marrow Transplant, University of California-San Francisco Benioff Children's Hospital, San Francisco, Calif., Ehl S; Center for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Locatelli F; Department of Pediatric Hematology-Oncology, University of Pavia, Istituto di Ricovero e Cura a Carattere Scientifico, Bambino Gesù Children's Hospital, Rome, Italy., Goldman F; Pediatrics, University of Alabama, Birmingham, Ala., Gennery AR; Institute of Cellular Medicine, Newcastle University and Children's Bone Marrow Transplant Unit, Great North Children's Hospital, Newcastle Upon Tyne, United Kingdom., Cowan MJ; Pediatric Allergy, Immunology and Bone Marrow Transplant, University of California-San Francisco Benioff Children's Hospital, San Francisco, Calif., Roncarolo MG; Division of Stem Cell Transplantation and Regenerative Medicine, Department of Pediatrics, Stanford University School of Medicine, Stanford, Calif., Bacchetta R; Division of Stem Cell Transplantation and Regenerative Medicine, Department of Pediatrics, Stanford University School of Medicine, Stanford, Calif. Electronic address: roasb@stanford.edu.

Publikováno v: The Journal of allergy and clinical immunology [J Allergy Clin Immunol] 2018 Mar; Vol. 141 (3), pp. 1036-1049.e5. Date of Electronic Publication: 2017 Dec 11.

Validating predictions of burial mounds with field data: the promise and reality of machine learning.

Autor: Sobotkova, Adela, Kristensen-McLachlan, Ross Deans, Mallon, Orla, Ross, Shawn Adrian

Publikováno v: Journal of Documentation; 2024, Vol. 80 Issue 5, p1167-1189, 23p

Underlying IPEX syndrome in a patient with idiopathic juvenile arthritis and vitiligo.

Autor: Mendonça, Leonardo Oliveira^1,2,3 (AUTHOR) leonardo.oliveira.mendonca@gmail.com, dos Reis Chuster, Adriana Pitchon¹ (AUTHOR), Dorna, Mayra Barros⁴ (AUTHOR), Barros, Samar Freschi² (AUTHOR), Alves, Janaina Baptista² (AUTHOR), Gonçalves, Victor Lucas⁵ (AUTHOR), Yang, Ariana Campos¹ (AUTHOR), Kalil, Jorge^1,2 (AUTHOR), Toledo-Barros, Myrthes Anna Maragna¹ (AUTHOR), Kokron, Cristina Maria¹ (AUTHOR)

Publikováno v: Allergy, Asthma & Clinical Immunology. 12/12/2022, Vol. 18 Issue 1, p1-6. 6p.