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Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity
ME. Maccari, M. Wolkewitz, C. Schwab, T. Lorenzini, JW. Leiding, N. Aladjdi, H. Abolhassani, W. Abou-Chahla, A. Aiuti, S. Azarnoush, S. Baris, V. Barlogis, F. Barzaghi, U. Baumann, M. Bloomfield, N. Bohynikova, D. Bodet, D. Boutboul, G. Bucciol,...
Jazyk angličtina Země Spojené státy americké
Typ dokumentu časopisecké články, práce podpořená grantem
Grantová podpora
MR/M012328/2
Medical Research Council - United Kingdom
206618/Z/17/Z
Wellcome Trust - United Kingdom
- MeSH
- 1-fosfatidylinositol-3-kinasa * genetika MeSH
- antigen CTLA-4 genetika MeSH
- fosfatidylinositol-3-kinasy třídy I MeSH
- fosfatidylinositol-3-kinasy genetika MeSH
- lidé MeSH
- mutace MeSH
- primární imunodeficience * genetika MeSH
- registrace MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
BACKGROUND: Activated phosphoinositide-3-kinase δ syndrome (APDS) is an inborn error of immunity (IEI) with infection susceptibility and immune dysregulation, clinically overlapping with other conditions. Management depends on disease evolution, but predictors of severe disease are lacking. OBJECTIVES: This study sought to report the extended spectrum of disease manifestations in APDS1 versus APDS2; compare these to CTLA4 deficiency, NFKB1 deficiency, and STAT3 gain-of-function (GOF) disease; and identify predictors of severity in APDS. METHODS: Data was collected from the ESID (European Society for Immunodeficiencies)-APDS registry and was compared with published cohorts of the other IEIs. RESULTS: The analysis of 170 patients with APDS outlines high penetrance and early onset of APDS compared to the other IEIs. The large clinical heterogeneity even in individuals with the same PIK3CD variant E1021K illustrates how poorly the genotype predicts the disease phenotype and course. The high clinical overlap between APDS and the other investigated IEIs suggests relevant pathophysiological convergence of the affected pathways. Preferentially affected organ systems indicate specific pathophysiology: bronchiectasis is typical of APDS1; interstitial lung disease and enteropathy are more common in STAT3 GOF and CTLA4 deficiency. Endocrinopathies are most frequent in STAT3 GOF, but growth impairment is also common, particularly in APDS2. Early clinical presentation is a risk factor for severe disease in APDS. CONCLUSIONS: APDS illustrates how a single genetic variant can result in a diverse autoimmune-lymphoproliferative phenotype. Overlap with other IEIs is substantial. Some specific features distinguish APDS1 from APDS2. Early onset is a risk factor for severe disease course calling for specific treatment studies in younger patients.
2nd Faculty of Medicine Charles University Prague Czech Republic
Amalia Children's Hospital Radboudumc Nijmegen The Netherlands
Barts Health National Health Service Trust London United Kingdom
Belarusian Research Center for Pediatric Oncology Hematology and Immunology Minsk Belarus
Belfast Health and Social Care Trust Ireland United Kingdom
Biotherapy Clinical Investigation Center Groupe Hospitalier Centre AP HP INSERM Paris France
Children's Research Center Zurich Switzerland
CHU Lille Institut d'Immunologie and University of Lille Lille France
Clinical Immunology Department Hôpital Saint Louis Paris France
Cluster of Excellence RESIST Hannover Medical School Hannover Germany
Department of Clinical Immunology and Allergy St James's University Hospital Leeds United Kingdom
Department of Hematology Nancy University Hospital Université de Lorraine Nancy France
Department of Immunology Children's Memorial Health Institute Warsaw Poland
Department of Immunology Motol University Hospital Prague Czech Republic
Department of Immunology University Hospital Zurich Zurich Switzerland
Department of Internal Medicine CHU Rennes Rennes France
Department of Internal Medicine Hôpital d'Estaing Clermont Ferrand France
Department of Medical Sciences University of Trieste Trieste Italy
Department of Medicine Queen Silvia Children's Hospital Gothenburg Sweden
Department of Medicine University of Cambridge Cambridge United Kingdom
Department of Pediatric Hematology and Oncology University Hospital of Caen Caen France
Department of Pediatrics Baylor College of Medicine Texas Children's Hospital Houston Tex
Department of Pediatrics CHU Clermont Ferrand Clermont Ferrand France
Department of Pediatrics North Hospital University Hospital of Saint Etienne Saint Etienne France
Department of Pediatrics Penteli Children's Hospital Athens Greece
Department of Pediatrics University Medical Center Ulm Ulm Germany
Department of System Medicine Pediatric Chair University of Tor Vergata Rome Italy
Departments of Human Genetics Hannover Medical School Hannover Germany
Departments of Pediatrics University Hospitals Leuven Leuven Belgium
Division of Immunology University Children's Hospital Zurich Zurich Switzerland
DZIF German Center for Infection Research Satellite Center Freiburg Freiburg Germany
General Pediatrics CHU Montpellier Montpellier France
Great North Children' s Hospital Newcastle upon Tyne United Kingdom
Great Ormond Street Hospital for Children University College London London United Kingdom
Great Ormond Street Institute of Child Health London United Kingdom
Hematology Department CHU Angers France
Hospices Civils de Lyon Lyon France
Imagine Institute INSERM U1163 Institut Imagine Université Paris Cité Paris France
Immunodeficiency Centre for Wales University Hospital of Wales Cardiff United Kingdom
Inserm U995 LIRIC Lille Inflammation Research International Center Lille France
Institute for Maternal and Child Health IRCCS Burlo Garofalo Trieste Italy
Institute of Immunity and Transplantation London United Kingdom
Internal Medicine Department Felix Guyon University Hospital Saint Denis La Réunion France
Internal Medicine University Hospital Saint Etienne France
Isil Berat Barlan Center for Translational Medicine Istanbul Turkey
Leeds Institute of Rheumatic and Musculoskeletal Medicine University of Leeds Leeds United Kingdom
Microbiology Immunology and Transplantation University Hospitals Leuven Leuven Belgium
Mixed Research Unit Infectious Processes in Tropical Island Environments La Réunion France
Newcastle University Newcastle upon Tyne United Kingdom
Pathogenesis and Control of Chronic Infections INSERM Université de Montpellier Montpellier France
Pediatric Allergy and Immunology Faculty of Medicine Marmara University Istanbul Turkey
Pediatric Allergy and Immunology Istanbul University Cerrahpasa Medical Faculty Istanbul Turkey
Pediatric Department Comenius University Medical Faculty Bratislava Slovakia
Pediatric Haemato Immunology Clinical Investigation Center Bordeaux France
Pediatric Hematology and Immunology Unit Robert Debré Hospital Paris France
Pediatric Hematology Immunology and Oncology Aix Marseille Université Marseille France
Pediatric Pulmonology Allergy and Neonatology Hannover Medical School Hannover Germany
Pediatric Unit Angers University Hospital Angers France
Rheumatology and Immunology Hannover Medical School Hannover Germany
San Raffaele Telethon Institute for Gene Therapy Ospedale San Raffaele Milan Italy
Service de Pneumologie Hôpital Foch Suresnes France
Unit of Pediatric Immuno Hemato and Oncology University Hospital Centre of Grenoble Grenoble France
Università Vita Salute San Raffaele Milan Italy
Université Paris Cité Paris France
University Clinical Centre of the Republic of Srpska Republic of Srpska Bosnia and Herzegovina
University Hospital Southampton Southampton United Kingdom
University Jean Monnet Saint Etienne France
William T Shearer Center for Human Immunobiology Texas Children's Hospital Houston Tex
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- $a Maccari, Maria Elena $u Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany. Electronic address: maria.elena.maccari@uniklinik-freiburg.de
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- $a Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity / $c ME. Maccari, M. Wolkewitz, C. Schwab, T. Lorenzini, JW. Leiding, N. Aladjdi, H. Abolhassani, W. Abou-Chahla, A. Aiuti, S. Azarnoush, S. Baris, V. Barlogis, F. Barzaghi, U. Baumann, M. Bloomfield, N. Bohynikova, D. Bodet, D. Boutboul, G. Bucciol, MS. Buckland, SO. Burns, C. Cancrini, P. Cathébras, M. Cavazzana, M. Cheminant, M. Chinello, P. Ciznar, TI. Coulter, M. D'Aveni, O. Ekwall, Z. Eric, E. Eren, A. Fasth, P. Frange, B. Fournier, M. Garcia-Prat, M. Gardembas, C. Geier, S. Ghosh, V. Goda, L. Hammarström, F. Hauck, M. Heeg, E. Heropolitanska-Pliszka, A. Hilfanova, S. Jolles, E. Karakoc-Aydiner, GR. Kindle, A. Kiykim, C. Klemann, P. Koletsi, S. Koltan, I. Kondratenko, J. Körholz, R. Krüger, E. Jeziorski, R. Levy, G. Le Guenno, G. Lefevre, V. Lougaris, A. Marzollo, N. Mahlaoui, M. Malphettes, A. Meinhardt, E. Merlin, I. Meyts, T. Milota, F. Moreira, D. Moshous, A. Mukhina, O. Neth, J. Neubert, B. Neven, A. Nieters, R. Nove-Josserand, E. Oksenhendler, A. Ozen, P. Olbrich, A. Perlat, M. Pac, JP. Schmid, L. Pacillo, A. Parra-Martinez, O. Paschenko, I. Pellier, AP. Sefer, A. Plebani, D. Plantaz, S. Prader, L. Raffray, H. Ritterbusch, JG. Riviere, B. Rivalta, S. Rusch, I. Sakovich, S. Savic, R. Scheible, N. Schleinitz, C. Schuetz, A. Schulz, A. Sediva, M. Semeraro, SO. Sharapova, A. Shcherbina, MA. Slatter, G. Sogkas, P. Soler-Palacin, C. Speckmann, JL. Stephan, F. Suarez, A. Tommasini, J. Trück, A. Uhlmann, KJ. van Aerde, J. van Montfrans, H. von Bernuth, K. Warnatz, T. Williams, AJJ. Worth, W. Ip, C. Picard, E. Catherinot, Z. Nademi, B. Grimbacher, LR. Forbes Satter, S. Kracker, A. Chandra, AM. Condliffe, S. Ehl, European Society for Immunodeficiencies Registry Working Party
- 520 9_
- $a BACKGROUND: Activated phosphoinositide-3-kinase δ syndrome (APDS) is an inborn error of immunity (IEI) with infection susceptibility and immune dysregulation, clinically overlapping with other conditions. Management depends on disease evolution, but predictors of severe disease are lacking. OBJECTIVES: This study sought to report the extended spectrum of disease manifestations in APDS1 versus APDS2; compare these to CTLA4 deficiency, NFKB1 deficiency, and STAT3 gain-of-function (GOF) disease; and identify predictors of severity in APDS. METHODS: Data was collected from the ESID (European Society for Immunodeficiencies)-APDS registry and was compared with published cohorts of the other IEIs. RESULTS: The analysis of 170 patients with APDS outlines high penetrance and early onset of APDS compared to the other IEIs. The large clinical heterogeneity even in individuals with the same PIK3CD variant E1021K illustrates how poorly the genotype predicts the disease phenotype and course. The high clinical overlap between APDS and the other investigated IEIs suggests relevant pathophysiological convergence of the affected pathways. Preferentially affected organ systems indicate specific pathophysiology: bronchiectasis is typical of APDS1; interstitial lung disease and enteropathy are more common in STAT3 GOF and CTLA4 deficiency. Endocrinopathies are most frequent in STAT3 GOF, but growth impairment is also common, particularly in APDS2. Early clinical presentation is a risk factor for severe disease in APDS. CONCLUSIONS: APDS illustrates how a single genetic variant can result in a diverse autoimmune-lymphoproliferative phenotype. Overlap with other IEIs is substantial. Some specific features distinguish APDS1 from APDS2. Early onset is a risk factor for severe disease course calling for specific treatment studies in younger patients.
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- $a Wolkewitz, Martin $u Institute of Medical Biometry and Statistics, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany
- 700 1_
- $a Schwab, Charlotte $u Department of Pediatrics and Adolescent Medicine, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany
- 700 1_
- $a Lorenzini, Tiziana $u Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia and ASST-Spedali Civili of Brescia, Brescia, Italy
- 700 1_
- $a Leiding, Jennifer W $u Division of Allergy and Immunology, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Md
- 700 1_
- $a Aladjdi, Nathalie $u Pediatric Haemato-Immunology, Clinical Investigation Center (CIC) 1401, Institut National de la Santé et de la Recherche Médicale (INSERM) Centre d'Investigation Clinique Pluridisciplinaire (CICP), Bordeaux University Hospital and Centre de Reference National des Cytopenies Auto-immunoes de l'Enfant (CEREVANCE), Bordeaux, France
- 700 1_
- $a Abolhassani, Hassan $u Division of Clinical Immunology, Department of Biosciences and Nutrition, Karolinska Institute, Stockholm, Sweden; Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran
- 700 1_
- $a Abou-Chahla, Wadih $u Department of Pediatric Hematology, Jeanne de Flandre Hospital, Centre Hospitalier Universitaire (CHU), Lille, France
- 700 1_
- $a Aiuti, Alessandro $u San Raffaele Telethon Institute for Gene Therapy (Sr-Tiget), Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Ospedale San Raffaele, Milan, Italy; Università Vita-Salute San Raffaele, Milan, Italy
- 700 1_
- $a Azarnoush, Saba $u Pediatric Hematology and Immunology Unit, Robert Debré Hospital, Paris, France
- 700 1_
- $a Baris, Safa $u Pediatric Allergy and Immunology, Faculty of Medicine, Marmara University, Istanbul, Turkey; Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Istanbul, Turkey
- 700 1_
- $a Barlogis, Vincent $u Pediatric Hematology, Immunology and Oncology, Aix-Marseille Université, Marseille, France
- 700 1_
- $a Barzaghi, Federica $u San Raffaele Telethon Institute for Gene Therapy (Sr-Tiget), Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Ospedale San Raffaele, Milan, Italy
- 700 1_
- $a Baumann, Ulrich $u Pediatric Pulmonology, Allergy, and Neonatology, Hannover Medical School, Hannover, Germany
- 700 1_
- $a Bloomfield, Marketa $u Department of Immunology, Motol University Hospital, Prague, Czech Republic; Second Faculty of Medicine, Charles University, Prague, Czech Republic
- 700 1_
- $a Bohynikova, Nadezda $u Department of Immunology, Children's Memorial Health Institute, Warsaw, Poland
- 700 1_
- $a Bodet, Damien $u Department of Pediatric Hematology and Oncology, University Hospital of Caen, Caen, France
- 700 1_
- $a Boutboul, David $u Clinical Immunology Department, Hôpital Saint-Louis, Paris, France
- 700 1_
- $a Bucciol, Giorgia $u Departments of Pediatrics, University Hospitals Leuven, Leuven, Belgium; Microbiology, Immunology, and Transplantation, University Hospitals Leuven, Leuven, Belgium
- 700 1_
- $a Buckland, Matthew S $u Barts Health National Health Service Trust, London, United Kingdom; Molecular and Cellular Immunology Section, Immunity and Inflammation Department, Great Ormond Street Institute of Child Health, London, United Kingdom
- 700 1_
- $a Burns, Siobhan O $u Institute of Immunity and Transplantation, London, United Kingdom; Department of Immunology, Royal Free London National Health Service Foundation Trust, London, United Kingdom
- 700 1_
- $a Cancrini, Caterina $u Department of System Medicine, Pediatric Chair, University of Tor Vergata, Rome, Italy; Research and Clinical Unit of Primary Immunodeficiencies, IRCCS Bambin Gesù Children Hospital, Rome, Italy
- 700 1_
- $a Cathébras, Pascal $u Internal Medicine, University Hospital, Saint-Etienne, France
- 700 1_
- $a Cavazzana, Marina $u Imagine Institute, INSERM U1163, Institut Imagine, Université Paris Cité, Paris, France; Biotherapy Department, Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP) Centre, Paris, France; Biotherapy Clinical Investigation Center Groupe Hospitalier Centre, AP-HP, INSERM, Paris, France
- 700 1_
- $a Cheminant, Morgane $u Imagine Institute, INSERM U1163, Institut Imagine, Université Paris Cité, Paris, France; Service d'Hématologie Adulte, Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP) Centre, Paris, France
- 700 1_
- $a Chinello, Matteo $u Pediatric Hematology Oncology, Department of Mother and Child, Azienda Ospedaliera Universitaria Integrata, Verona, Italy
- 700 1_
- $a Ciznar, Peter $u Pediatric Department, Comenius University Medical Faculty, Bratislava, Slovakia
- 700 1_
- $a Coulter, Tanya I $u Belfast Health and Social Care Trust, Ireland, United Kingdom
- 700 1_
- $a D'Aveni, Maud $u Department of Hematology, Nancy University Hospital, Université de Lorraine, Nancy, France; UMR 7365, Centre National de la Recherche Scientifique, Ingénierie Moléculaire et Physiopathologie Articulaire, Université de Lorraine, Nancy, France
- 700 1_
- $a Ekwall, Olov $u Department of Pediatrics, Institute of Clinical Sciences, The Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden; Department of Rheumatology and Inflammation Research, The Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
- 700 1_
- $a Eric, Zelimir $u University Clinical Centre of the Republic of Srpska, Republic of Srpska, Bosnia and Herzegovina
- 700 1_
- $a Eren, Efrem $u University Hospital Southampton, Southampton, United Kingdom
- 700 1_
- $a Fasth, Anders $u Department of Pediatrics, Institute of Clinical Sciences, The Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden; Department of Medicine, Queen Silvia Children's Hospital, Gothenburg, Sweden
- 700 1_
- $a Frange, Pierre $u Unité de Recherche Propre 7328, Fédération pour l'Étude et évaluation des Thérapeutiques intra-UtérineS (FETUS), Institut Imagine, Université Paris Cité, Paris, France; Laboratory of Clinical Microbiology, Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP) Centre, Paris, France
- 700 1_
- $a Fournier, Benjamin $u Pediatric Immunology-Hematology and Rheumatology Unit, Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP) Centre, Paris, France
- 700 1_
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- 700 1_
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- 700 1_
- $a Geier, Christoph $u Department of Rheumatology and Clinical Immunology, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany
- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
- $a Jolles, Stephen $u Immunodeficiency Centre for Wales, University Hospital of Wales, Cardiff, United Kingdom
- 700 1_
- $a Karakoc-Aydiner, Elif $u Pediatric Allergy and Immunology, Faculty of Medicine, Marmara University, Istanbul, Turkey; Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Istanbul, Turkey; Isil Berat Barlan Center for Translational Medicine, Istanbul, Turkey
- 700 1_
- $a Kindle, Gerhard R $u Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Centre for Biobanking FREEZE, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany
- 700 1_
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- 700 1_
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- 700 1_
- $a Koletsi, Patra $u Department of Pediatrics, Penteli Children's Hospital, Athens, Greece
- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
- $a Krüger, Renate $u Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany; Department of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Berlin Institute of Health, Berlin, Germany
- 700 1_
- $a Jeziorski, Eric $u General Pediatrics, CHU Montpellier, Montpellier, France; Pathogenesis and Control of Chronic Infections, INSERM, Université de Montpellier, Montpellier, France
- 700 1_
- $a Levy, Romain $u Pediatric Immunology-Hematology and Rheumatology Unit, Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP) Centre, Paris, France
- 700 1_
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- 700 1_
- $a Lefevre, Guillaume $u CHU Lille, Institut d'Immunologie and University of Lille, Lille, France; Inserm U995, LIRIC-Lille Inflammation Research International Center, Lille, France
- 700 1_
- $a Lougaris, Vassilios $u Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia and ASST-Spedali Civili of Brescia, Brescia, Italy
- 700 1_
- $a Marzollo, Antonio $u Pediatric Hematology, Oncology, and Stem Cell Transplant Division, Padua University Hospital, Padua, Italy
- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
- $a Moshous, Despina $u Laboratories of Dynamique du Génome et Système Immunitaire, Institut Imagine, Université Paris Cité, Paris, France; Pediatric Immunology-Hematology and Rheumatology Unit, Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP) Centre, Paris, France; Necker Enfants Malades University Hospital, AP-HP, French National Reference Center for Primary Immune Deficiencies (CEREDIH), Paris Université Cité, Paris, France
- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
- $a Neven, Benedicte $u Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, Institut Imagine, Université Paris Cité, Paris, France; Pediatric Immunology-Hematology and Rheumatology Unit, Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP) Centre, Paris, France
- 700 1_
- $a Nieters, Alexandra $u Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Centre for Biobanking FREEZE, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany
- 700 1_
- $a Nove-Josserand, Raphaele $u Hospices Civils de Lyon, Lyon, France
- 700 1_
- $a Oksenhendler, Eric $u Clinical Immunology Department, Hôpital Saint-Louis, Paris, France
- 700 1_
- $a Ozen, Ahmet $u Pediatric Allergy and Immunology, Faculty of Medicine, Marmara University, Istanbul, Turkey; Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Istanbul, Turkey; Isil Berat Barlan Center for Translational Medicine, Istanbul, Turkey
- 700 1_
- $a Olbrich, Peter $u Paediatric Infectious Diseases, Rheumatology and Immunology Unit, Hospital Universitario Virgen del Rocío, Instituto de Biomedicina de Sevilla, Universidad de Sevilla, Consejo Superior de Investigaciones Cientificas, Red de Investigación Translacional en Infectología Pediátrica, Seville, Spain
- 700 1_
- $a Perlat, Antoinette $u Department of Internal Medicine, CHU Rennes, Rennes, France
- 700 1_
- $a Pac, Malgorzata $u Department of Immunology, Children's Memorial Health Institute, Warsaw, Poland
- 700 1_
- $a Schmid, Jana Pachlopnik $u Division of Immunology, University Children's Hospital Zurich, Zurich, Switzerland; Children's Research Center, Zurich, Switzerland
- 700 1_
- $a Pacillo, Lucia $u Department of System Medicine, Pediatric Chair, University of Tor Vergata, Rome, Italy; Research and Clinical Unit of Primary Immunodeficiencies, IRCCS Bambin Gesù Children Hospital, Rome, Italy
- 700 1_
- $a Parra-Martinez, Alba $u Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d'Hebron University Hospital, Barcelona, Spain
- 700 1_
- $a Paschenko, Olga $u Russian Clinical Childrens Hospital, Pirogov Russian National Research Medical University, Moscow, Russia
- 700 1_
- $a Pellier, Isabelle $u Pediatric Unit, Angers University Hospital, Angers, France
- 700 1_
- $a Sefer, Asena Pinar $u Pediatric Allergy and Immunology, Faculty of Medicine, Marmara University, Istanbul, Turkey; Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Istanbul, Turkey
- 700 1_
- $a Plebani, Alessandro $u Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia and ASST-Spedali Civili of Brescia, Brescia, Italy
- 700 1_
- $a Plantaz, Dominique $u Unit of Pediatric Immuno Hemato and Oncology, University Hospital Centre of Grenoble, Grenoble, France
- 700 1_
- $a Prader, Seraina $u Division of Immunology, University Children's Hospital Zurich, Zurich, Switzerland; Children's Research Center, Zurich, Switzerland
- 700 1_
- $a Raffray, Loic $u Internal Medicine Department, Felix Guyon University Hospital, Saint Denis, La Réunion, France; Mixed Research Unit (UMR) "Infectious Processes in Tropical Island Environments", La Réunion, France
- 700 1_
- $a Ritterbusch, Henrike $u Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany
- 700 1_
- $a Riviere, Jacques G $u Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d'Hebron University Hospital, Barcelona, Spain
- 700 1_
- $a Rivalta, Beatrice $u Department of System Medicine, Pediatric Chair, University of Tor Vergata, Rome, Italy; Research and Clinical Unit of Primary Immunodeficiencies, IRCCS Bambin Gesù Children Hospital, Rome, Italy
- 700 1_
- $a Rusch, Stephan $u Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany
- 700 1_
- $a Sakovich, Inga $u Belarusian Research Center for Pediatric Oncology, Hematology, and Immunology, Minsk, Belarus
- 700 1_
- $a Savic, Sinisa $u Leeds Institute of Rheumatic and Musculoskeletal Medicine, University of Leeds, Leeds, United Kingdom; Department of Clinical Immunology and Allergy, St James's University Hospital, Leeds, United Kingdom
- 700 1_
- $a Scheible, Raphael $u Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Institute for AI and Informatics in Medicine, University Hospital Rechts der Isar, Technical University Munich, Munich, Germany
- 700 1_
- $a Schleinitz, Nicolas $u Département de Médecine Interne, Timone Hospital, Assistance Publique-Hôpitaux de Marseille, Aix-Marseille Université, Marseille, France
- 700 1_
- $a Schuetz, Catharina $u Department of Pediatrics, Universitätsklinikum Carl-Gustav-Carus, Technische Universität Dresden, Dresden, Germany
- 700 1_
- $a Schulz, Ansgar $u Department of Pediatrics, University Medical Center Ulm, Ulm, Germany
- 700 1_
- $a Sediva, Anna $u Department of Immunology, Motol University Hospital, Prague, Czech Republic; Second Faculty of Medicine, Charles University, Prague, Czech Republic
- 700 1_
- $a Semeraro, Michaela $u Clinical Investigation Center (CIC) 1419, Necker-Enfants Malades Hospital, AP-HP, Groupe Hospitalier Paris Centre, Paris, France; EA7323 Pediatric and Perinatal Drug Evaluation and Pharmacology Research Unit, Université Paris Cité, Paris, France
- 700 1_
- $a Sharapova, Svetlana O $u Belarusian Research Center for Pediatric Oncology, Hematology, and Immunology, Minsk, Belarus
- 700 1_
- $a Shcherbina, Anna $u Department of Immunology, Research and Clinical Center for Pediatric Hematology, Oncology and Immunology, Moscow, Russia
- 700 1_
- $a Slatter, Mary A $u Great North Children' s Hospital, Newcastle upon Tyne, United Kingdom; Newcastle University, Newcastle upon Tyne, United Kingdom
- 700 1_
- $a Sogkas, Georgios $u Rheumatology and Immunology, Hannover Medical School, Hannover, Germany; Cluster of Excellence RESIST (EXC 2155), Hannover Medical School, Hannover, Germany
- 700 1_
- $a Soler-Palacin, Pere $u Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d'Hebron University Hospital, Barcelona, Spain
- 700 1_
- $a Speckmann, Carsten $u Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany
- 700 1_
- $a Stephan, Jean-Louis $u Department of Pediatrics, North Hospital, University Hospital of Saint Etienne, Saint-Etienne, France; University Jean Monnet, Saint-Etienne, France
- 700 1_
- $a Suarez, Felipe $u Imagine Institute, INSERM U1163, Institut Imagine, Université Paris Cité, Paris, France; Service d'Hématologie Adulte, Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP) Centre, Paris, France
- 700 1_
- $a Tommasini, Alberto $u Department of Medical Sciences, University of Trieste, Trieste, Italy; Institute for Maternal and Child Health, IRCCS Burlo Garofalo, Trieste, Italy
- 700 1_
- $a Trück, Johannes $u Division of Immunology, University Children's Hospital Zurich, Zurich, Switzerland; Children's Research Center, Zurich, Switzerland
- 700 1_
- $a Uhlmann, Annette $u Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Clinical Trials Unit, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany
- 700 1_
- $a van Aerde, Koen J $u Amalia Children's Hospital, Radboudumc, Nijmegen, The Netherlands
- 700 1_
- $a van Montfrans, Joris $u Department of Pediatric Immunology and Infectious Diseases, University Medical Center Utrecht, Utrecht, The Netherlands
- 700 1_
- $a von Bernuth, Horst $u Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany; Department of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Berlin Institute of Health, Berlin, Germany
- 700 1_
- $a Warnatz, Klaus $u Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Department of Rheumatology and Clinical Immunology, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Department of Immunology, University Hospital Zurich, Zurich, Switzerland
- 700 1_
- $a Williams, Tony $u University Hospital Southampton, Southampton, United Kingdom
- 700 1_
- $a Worth, Austen J J $u Great Ormond Street Hospital for Children, University College London, London, United Kingdom
- 700 1_
- $a Ip, Winnie $u Great Ormond Street Institute of Child Health, London, United Kingdom; Great Ormond Street Hospital for Children, University College London, London, United Kingdom
- 700 1_
- $a Picard, Capucine $u Lymphocyte Activation and Susceptibility to EBV Infection, Institut Imagine, Université Paris Cité, Paris, France; Pediatric Immunology-Hematology and Rheumatology Unit, Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP) Centre, Paris, France; Study Center for Primary Immunodeficiencies, Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP) Centre, Paris, France; Necker Enfants Malades University Hospital, AP-HP, French National Reference Center for Primary Immune Deficiencies (CEREDIH), Paris Université Cité, Paris, France
- 700 1_
- $a Catherinot, Emilie $u Service de Pneumologie, Hôpital Foch, Suresnes, France
- 700 1_
- $a Nademi, Zohreh $u Great North Children' s Hospital, Newcastle upon Tyne, United Kingdom; Newcastle University, Newcastle upon Tyne, United Kingdom
- 700 1_
- $a Grimbacher, Bodo $u Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Department of Rheumatology and Clinical Immunology, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; DZIF-German Center for Infection Research, Satellite Center Freiburg, Freiburg, Germany; CIBSS-Centre for Integrative Biological Signalling Studies, Albert-Ludwigs University, Freiburg, Germany; Cluster of Excellence RESIST (EXC 2155), Hannover Medical School, Hannover, Germany
- 700 1_
- $a Forbes Satter, Lisa R $u Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston, Tex; William T. Shearer Center for Human Immunobiology, Texas Children's Hospital, Houston, Tex
- 700 1_
- $a Kracker, Sven $u Human Lymphohematopoiesis, INSERM Unité Mixte de Recherche (UMR) 1163, Institut Imagine, Université Paris Cité, Paris, France; Université Paris Cité, Paris, France
- 700 1_
- $a Chandra, Anita $u Department of Clinical Immunology, Cambridge University Hospitals National Health Service Foundation Trust, Cambridge, United Kingdom; Department of Medicine, University of Cambridge, Cambridge, United Kingdom
- 700 1_
- $a Condliffe, Alison M $u Department of Infection, Immunity and Cardiovascular Diseases, University of Sheffield, Sheffield, United Kingdom
- 700 1_
- $a Ehl, Stephan $u Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany
- 710 2_
- $a European Society for Immunodeficiencies Registry Working Party
- 773 0_
- $w MED00002505 $t Journal of allergy and clinical immunology $x 1097-6825 $g Roč. 152, č. 4 (2023), s. 984-996.e10
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