换一批
换一批Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity.
作者：
Maria Elena,Maccari [1]
;
Martin,Wolkewitz [2]
;
Charlotte,Schwab [3]
;
Tiziana,Lorenzini [4]
;
Jennifer W,Leiding [5]
;
Nathalie,Aladjdi [6]
;
Hassan,Abolhassani [7]
;
Wadih,Abou-Chahla [8]
;
Alessandro,Aiuti [9]
;
Saba,Azarnoush [10]
;
Safa,Baris [11]
;
Vincent,Barlogis [12]
;
Federica,Barzaghi [13]
;
Ulrich,Baumann [14]
;
Marketa,Bloomfield [15]
;
Nadezda,Bohynikova [16]
;
Damien,Bodet [17]
;
David,Boutboul [18]
;
Giorgia,Bucciol [19]
;
Matthew S,Buckland [20]
;
Siobhan O,Burns [21]
;
Caterina,Cancrini [22]
;
Pascal,Cathébras [23]
;
Marina,Cavazzana [24]
;
Morgane,Cheminant [25]
;
Matteo,Chinello [26]
;
Peter,Ciznar [27]
;
Tanya I,Coulter [28]
;
Maud,D'Aveni [29]
;
Olov,Ekwall [30]
;
Zelimir,Eric [31]
;
Efrem,Eren [32]
;
Anders,Fasth [33]
;
Pierre,Frange [34]
;
Benjamin,Fournier [35]
;
Marina,Garcia-Prat [36]
;
Martine,Gardembas [37]
;
Christoph,Geier [38]
;
Sujal,Ghosh [39]
;
Vera,Goda [40]
;
Lennart,Hammarström [41]
;
Fabian,Hauck [42]
;
Maximilian,Heeg [43]
;
Edyta,Heropolitanska-Pliszka [16]
;
Anna,Hilfanova [44]
;
Stephen,Jolles [45]
;
Elif,Karakoc-Aydiner [46]
;
Gerhard R,Kindle [47]
;
Ayca,Kiykim [48]
;
Christian,Klemann [49]
;
Patra,Koletsi [50]
;
Sylwia,Koltan [51]
;
Irina,Kondratenko [52]
;
Julia,Körholz [53]
;
Renate,Krüger [54]
;
Eric,Jeziorski [55]
;
Romain,Levy [35]
;
Guillaume,Le Guenno [56]
;
Guillaume,Lefevre [57]
;
Vassilios,Lougaris [58]
;
Antonio,Marzollo [59]
;
Nizar,Mahlaoui [60]
;
Marion,Malphettes [18]
;
Andrea,Meinhardt [61]
;
Etienne,Merlin [62]
;
Isabelle,Meyts [19]
;
Tomas,Milota [15]
;
Fernando,Moreira [63]
;
Despina,Moshous [64]
;
Anna,Mukhina [65]
;
Olaf,Neth [66]
;
Jennifer,Neubert [39]
;
Benedicte,Neven [67]
;
Alexandra,Nieters [47]
;
Raphaele,Nove-Josserand [68]
;
Eric,Oksenhendler [18]
;
Ahmet,Ozen [46]
;
Peter,Olbrich [66]
;
Antoinette,Perlat [69]
;
Malgorzata,Pac [16]
;
Jana Pachlopnik,Schmid [70]
;
Lucia,Pacillo [22]
;
Alba,Parra-Martinez [36]
;
Olga,Paschenko [52]
;
Isabelle,Pellier [71]
;
Asena Pinar,Sefer [11]
;
Alessandro,Plebani [58]
;
Dominique,Plantaz [72]
;
Seraina,Prader [70]
;
Loic,Raffray [73]
;
Henrike,Ritterbusch [43]
;
Jacques G,Riviere [36]
;
Beatrice,Rivalta [22]
;
Stephan,Rusch [43]
;
Inga,Sakovich [74]
;
Sinisa,Savic [75]
;
Raphael,Scheible [76]
;
Nicolas,Schleinitz [77]
;
Catharina,Schuetz [53]
;
Ansgar,Schulz [78]
;
Anna,Sediva [15]
;
Michaela,Semeraro [79]
;
Svetlana O,Sharapova [74]
;
Anna,Shcherbina [65]
;
Mary A,Slatter [80]
;
Georgios,Sogkas [81]
;
Pere,Soler-Palacin [36]
;
Carsten,Speckmann [82]
;
Jean-Louis,Stephan [83]
;
Felipe,Suarez [25]
;
Alberto,Tommasini [84]
;
Johannes,Trück [70]
;
Annette,Uhlmann [85]
;
Koen J,van Aerde [86]
;
Joris,van Montfrans [87]
;
Horst,von Bernuth [54]
;
Klaus,Warnatz [88]
;
Tony,Williams [32]
;
Austen J J,Worth [89]
;
Winnie,Ip [90]
;
Capucine,Picard [91]
;
Emilie,Catherinot [92]
;
Zohreh,Nademi [80]
;
Bodo,Grimbacher [93]
;
Lisa R,Forbes Satter [94]
;
Sven,Kracker [95]
;
Anita,Chandra [96]
;
Alison M,Condliffe [97]
;
Stephan,Ehl [43]
;
European Society for Immunodeficiencies Registry Working Party
作者单位：
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.
[1]
Institute of Medical Biometry and Statistics, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
[2]
Department of Pediatrics and Adolescent Medicine, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
[3]
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.
[4]
Division of Allergy and Immunology, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Md.
[5]
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.
[6]
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.
[7]
Department of Pediatric Hematology, Jeanne de Flandre Hospital, Centre Hospitalier Universitaire (CHU), Lille, France.
[8]
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.
[9]
Pediatric Hematology and Immunology Unit, Robert Debré Hospital, Paris, France.
[10]
Pediatric Allergy and Immunology, Faculty of Medicine, Marmara University, Istanbul, Turkey; Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Istanbul, Turkey.
[11]
Pediatric Hematology, Immunology and Oncology, Aix-Marseille Université, Marseille, France.
[12]
San Raffaele Telethon Institute for Gene Therapy (Sr-Tiget), Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Ospedale San Raffaele, Milan, Italy.
[13]
Pediatric Pulmonology, Allergy, and Neonatology, Hannover Medical School, Hannover, Germany.
[14]
Department of Immunology, Motol University Hospital, Prague, Czech Republic; Second Faculty of Medicine, Charles University, Prague, Czech Republic.
[15]
Department of Immunology, Children's Memorial Health Institute, Warsaw, Poland.
[16]
Department of Pediatric Hematology and Oncology, University Hospital of Caen, Caen, France.
[17]
Clinical Immunology Department, Hôpital Saint-Louis, Paris, France.
[18]
Departments of Pediatrics, University Hospitals Leuven, Leuven, Belgium; Microbiology, Immunology, and Transplantation, University Hospitals Leuven, Leuven, Belgium.
[19]
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.
[20]
Institute of Immunity and Transplantation, London, United Kingdom; Department of Immunology, Royal Free London National Health Service Foundation Trust, London, United Kingdom.
[21]
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.
[22]
Internal Medicine, University Hospital, Saint-Etienne, France.
[23]
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.
[24]
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.
[25]
Pediatric Hematology Oncology, Department of Mother and Child, Azienda Ospedaliera Universitaria Integrata, Verona, Italy.
[26]
Pediatric Department, Comenius University Medical Faculty, Bratislava, Slovakia.
[27]
Belfast Health and Social Care Trust, Ireland, United Kingdom.
[28]
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.
[29]
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.
[30]
University Clinical Centre of the Republic of Srpska, Republic of Srpska, Bosnia and Herzegovina.
[31]
University Hospital Southampton, Southampton, United Kingdom.
[32]
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.
[33]
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.
[34]
Pediatric Immunology-Hematology and Rheumatology Unit, Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP) Centre, Paris, France.
[35]
Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d'Hebron University Hospital, Barcelona, Spain.
[36]
Hematology Department, CHU, Angers, France.
[37]
Department of Rheumatology and Clinical Immunology, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
[38]
Department of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Heinrich-Heine-University-University Hospital Düsseldorf, Düsseldorf, Germany.
[39]
Central Hospital of Southern Pest, National Institute of Hematology and Infectious Diseases, Budapest, Hungary.
[40]
Division of Clinical Immunology, Department of Biosciences and Nutrition, Karolinska Institute, Stockholm, Sweden.
[41]
Division of Pediatric Immunology and Rheumatology, Department of Pediatrics, Dr von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.
[42]
Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
[43]
Department of Pediatrics, Immunology, Infectious and Rare Diseases, European Medical School, International European University, Kyiv, Ukraine.
[44]
Immunodeficiency Centre for Wales, University Hospital of Wales, Cardiff, United Kingdom.
[45]
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.
[46]
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.
[47]
Pediatric Allergy and Immunology, Istanbul University Cerrahpasa Medical Faculty, Istanbul, Turkey.
[48]
Departments of Human Genetics, Hannover Medical School, Hannover, Germany; Department of Pediatric Immunology, Rheumatology, & Infectiology, Hospital for Children and Adolescents, Leipzig University, Leipzig, Germany.
[49]
Department of Pediatrics, Penteli Children's Hospital, Athens, Greece.
[50]
Department of Paediatric Haematology and Oncology, Ludwik Rydygier Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Toruń, Bydgoszcz, Poland.
[51]
Russian Clinical Childrens Hospital, Pirogov Russian National Research Medical University, Moscow, Russia.
[52]
Department of Pediatrics, Universitätsklinikum Carl-Gustav-Carus, Technische Universität Dresden, Dresden, Germany.
[53]
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.
[54]
General Pediatrics, CHU Montpellier, Montpellier, France; Pathogenesis and Control of Chronic Infections, INSERM, Université de Montpellier, Montpellier, France.
[55]
Department of Internal Medicine, Hôpital d'Estaing, Clermont-Ferrand, France.
[56]
CHU Lille, Institut d'Immunologie and University of Lille, Lille, France; Inserm U995, LIRIC-Lille Inflammation Research International Center, Lille, France.
[57]
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.
[58]
Pediatric Hematology, Oncology, and Stem Cell Transplant Division, Padua University Hospital, Padua, Italy.
[59]
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.
[60]
Center for Pediatrics and Adolescent Medicine, Department of Pediatric Hematology and Oncology, Medical Center, University Hospital Giessen, Giessen, Germany.
[61]
Department of Pediatrics, CHU Clermont-Ferrand, Clermont-Ferrand, France.
[62]
Department of Immunology, Royal Free London National Health Service Foundation Trust, London, United Kingdom.
[63]
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.
[64]
Department of Immunology, Research and Clinical Center for Pediatric Hematology, Oncology and Immunology, Moscow, Russia.
[65]
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.
[66]
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.
[67]
Hospices Civils de Lyon, Lyon, France.
[68]
Department of Internal Medicine, CHU Rennes, Rennes, France.
[69]
Division of Immunology, University Children's Hospital Zurich, Zurich, Switzerland; Children's Research Center, Zurich, Switzerland.
[70]
Pediatric Unit, Angers University Hospital, Angers, France.
[71]
Unit of Pediatric Immuno Hemato and Oncology, University Hospital Centre of Grenoble, Grenoble, France.
[72]
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.
[73]
Belarusian Research Center for Pediatric Oncology, Hematology, and Immunology, Minsk, Belarus.
[74]
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.
[75]
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.
[76]
Département de Médecine Interne, Timone Hospital, Assistance Publique-Hôpitaux de Marseille, Aix-Marseille Université, Marseille, France.
[77]
Department of Pediatrics, University Medical Center Ulm, Ulm, Germany.
[78]
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.
[79]
Great North Children' s Hospital, Newcastle upon Tyne, United Kingdom; Newcastle University, Newcastle upon Tyne, United Kingdom.
[80]
Rheumatology and Immunology, Hannover Medical School, Hannover, Germany; Cluster of Excellence RESIST (EXC 2155), Hannover Medical School, Hannover, Germany.
[81]
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.
[82]
Department of Pediatrics, North Hospital, University Hospital of Saint Etienne, Saint-Etienne, France; University Jean Monnet, Saint-Etienne, France.
[83]
Department of Medical Sciences, University of Trieste, Trieste, Italy; Institute for Maternal and Child Health, IRCCS Burlo Garofalo, Trieste, Italy.
[84]
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.
[85]
Amalia Children's Hospital, Radboudumc, Nijmegen, The Netherlands.
[86]
Department of Pediatric Immunology and Infectious Diseases, University Medical Center Utrecht, Utrecht, The Netherlands.
[87]
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.
[88]
Great Ormond Street Hospital for Children, University College London, London, United Kingdom.
[89]
Great Ormond Street Institute of Child Health, London, United Kingdom; Great Ormond Street Hospital for Children, University College London, London, United Kingdom.
[90]
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.
[91]
Service de Pneumologie, Hôpital Foch, Suresnes, France.
[92]
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.
[93]
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.
[94]
Human Lymphohematopoiesis, INSERM Unité Mixte de Recherche (UMR) 1163, Institut Imagine, Université Paris Cité, Paris, France; Université Paris Cité, Paris, France.
[95]
Department of Clinical Immunology, Cambridge University Hospitals National Health Service Foundation Trust, Cambridge, United Kingdom; Department of Medicine, University of Cambridge, Cambridge, United Kingdom.
[96]
Department of Infection, Immunity and Cardiovascular Diseases, University of Sheffield, Sheffield, United Kingdom.
[97]
主题词
人类(Humans);磷酸肌醇3-激酶(Phosphatidylinositol 3-Kinase);磷酸肌醇3-激酶类(Phosphatidylinositol 3-Kinases);I类磷脂酰肌醇3-激酶类(Class I Phosphatidylinositol 3-Kinases);突变(Mutation);登记(Registries)
DOI
10.1016/j.jaci.2023.06.015
PMID
37390899
发布时间
2023-10-12
- 浏览2
The Journal of allergy and clinical immunology
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