المؤلفون: Newman, EN, Feusier, J, Jacob, SP, Jorde, LB, Hill, HR, Hanson, C, Izawa, K, Leahy, TR, Yamada, M, Rae, W, Hauck, F, Abolhassani, H, Aghamohammadi, A, Hammarstrom, L, Kanegane, H, Slade, C, Roifman, CM, Grimbacher, B, Zimmerman, GA, Bohnsack, JF, Chen, K

المصدر: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. 141(2)

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:137986126

المؤلفون: Coulter, TI, Chandra, A, Bacon, CM, Babar, J, Curtis, J, Screaton, N, Goodlad, JR, Farmer, G, Steele, CL, Leahy, TR, Doffinger, R, Baxendale, H, Bernatoniene, J, Edgar, JD, Longhurst, HJ, Ehl, S, Speckmann, C, Grimbacher, B, Sediva, A, Milota, T, Faust, SN, Williams, AP, Hayman, G, Kucuk, ZY, Hague, R, French, P, Brooker, R, Forsyth, P, Herriot, R, Cancrini, C, Palma, P, Ariganello, P, Conlon, N, Feighery, C, Gavin, PJ, Jones, A, Imai, K, Ibrahim, MA, Markelj, G, Abinun, M, Rieux-Laucat, F, Latour, S, Pellier, I, Fischer, A, Touzot, F, Casanova, JL, Durandy, A, Burns, SO, Savic, S, Kumararatne, DS, Moshous, D, Kracker, S, Vanhaesebroeck, B, Okkenhaug, K, Picard, C, Nejentsev, S, Condliffe, AM, Cant, AJ

المساهمون: Chandra, Anita [0000-0002-9061-879X], Okkenhaug, Klaus [0000-0002-9432-4051], Nezhentsev, Sergey [0000-0002-7528-4461], Apollo - University of Cambridge Repository

المصدر: The Journal of Allergy and Clinical Immunology

مصطلحات موضوعية: Adult, Male, Adolescent, bronchiectasis, Class I Phosphatidylinositol 3-Kinases, International Cooperation, Immunology, PPV, Pneumococcal polysaccharide vaccine, HSCT, Hematopoietic stem cell transplantation, Cohort Studies, Mice, Young Adult, APDS, Activated phosphoinositide-3 kinase δ syndrome, phosphoinositide 3-kinase inhibitor, Immune Deficiencies, Infection, and Systemic Immune Disorders, Recurrence, PI3K, Phosphoinositide 3-kinase, Surveys and Questionnaires, BALF, Bronchoalveolar lavage fluid, Activated phosphoinositide 3-kinase δ syndrome, Animals, Humans, Immunology and Allergy, Enzyme Inhibitors, CMV, Cytomegalovirus, Child, HSV, Herpes simplex virus, Respiratory Tract Infections, CNS, Central nervous system, Hematopoietic Stem Cell Transplantation, Immunologic Deficiency Syndromes, Immunoglobulins, Intravenous, Infant, GOF, Gain of function, Herpesviridae Infections, Antibiotic Prophylaxis, Middle Aged, PIK3CD gene, Survival Analysis, Lymphoproliferative Disorders, Child, Preschool, Mutation, CT, Computed tomography, p110δ-activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency, Female, immunodeficiency, phosphoinositide 3-kinase δ, OR, Odds ratio

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::a5a4918b3be492ba1184de8dfc1df017

المؤلفون: Bogue CO, Leahy TR, Rea DJ, Bitnun A, Brandao LR, Kahr WH, Jacobson S, Amaral JG, Connolly BL

المصدر: CardioVascular & Interventional Radiology; Nov2009, Vol. 32 Issue 6, p1304-1307, 4p

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المؤلفون: Sokay A; Paediatrics, Midland Regional Hospital Mullingar, Mullingar, Ireland ANITHA.SOKAY1@GMAIL.COM., Leahy TR; Immunology, Our Lady's Hospital Crumlin, Crumlin, Ireland., O'Regan M; Neurology, Our Lady's Hospital Crumlin, Crumlin, Ireland., O' Grady M; Paediatrics, Midland Regional Hospital Mullingar, Mullingar, Ireland.

المصدر: BMJ case reports [BMJ Case Rep] 2024 Mar 07; Vol. 17 (3). Date of Electronic Publication: 2024 Mar 07.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 101526291 Publication Model: Electronic Cited Medium: Internet ISSN: 1757-790X (Electronic) Linking ISSN: 1757790X NLM ISO Abbreviation: BMJ Case Rep Subsets: MEDLINE

مواضيع طبية MeSH: Ataxia Telangiectasia*/complications , Ataxia Telangiectasia*/diagnosis , Ataxia Telangiectasia*/genetics , Cerebellar Ataxia* , Spinocerebellar Degenerations*, Female ; Humans ; Ataxia Telangiectasia Mutated Proteins/genetics ; Mutation ; Adolescent

المؤلفون: King C; Diagnostic and Clinical Immunology, St. James's Hospital, Dublin, Ireland., Ridge K; Diagnostic and Clinical Immunology, St. James's Hospital, Dublin, Ireland.; School of Medicine, Trinity College Dublin, Dublin, Ireland., Smyth J; Finance Department, St. James's Hospital, Dublin, Ireland., Flinn AM; School of Medicine, Trinity College Dublin, Dublin, Ireland.; Department of Pediatric Immunology, Children's Health Ireland at Crumlin, Dublin, Ireland., Leahy TR; School of Medicine, Trinity College Dublin, Dublin, Ireland.; Department of Pediatric Immunology, Children's Health Ireland at Crumlin, Dublin, Ireland., Conlon N; Diagnostic and Clinical Immunology, St. James's Hospital, Dublin, Ireland.; School of Medicine, Trinity College Dublin, Dublin, Ireland.

المصدر: Frontiers in immunology [Front Immunol] 2024 Mar 05; Vol. 15, pp. 1270451. Date of Electronic Publication: 2024 Mar 05 (Print Publication: 2024).

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101560960 Publication Model: eCollection Cited Medium: Internet ISSN: 1664-3224 (Electronic) Linking ISSN: 16643224 NLM ISO Abbreviation: Front Immunol Subsets: MEDLINE

مواضيع طبية MeSH: Transition to Adult Care*, Adult ; Humans ; Child ; Hospitals ; Surveys and Questionnaires ; Patient Outcome Assessment

المؤلفون: Hägele P; Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Staus P; Institute of Medical Biometry and Statistics, Division Methods in Clinical Epidemiology, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany., Scheible R; 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., Uhlmann A; Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Heeg M; Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Klemann C; Department for Pediatric Immunology, Rheumatology and Infectiology, Hospital for Children and Adolescents, University of Leipzig, Leipzig, Germany., Maccari ME; 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., Ritterbusch H; Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Armstrong M; UCB Pharma, Braine-L'Alleud, Belgium., Cutcutache I; UCB Pharma, Slough, UK., Elliott KS; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., von Bernuth H; Department of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany; Labor Berlin Charité-Vivantes, Department of Immunology, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany., Leahy TR; Department of Paediatric Immunology, CHI at Crumlin, Dublin, Ireland; Trinity College, University of Dublin, Dublin, Ireland., Leyh J; Clinic for Children and Adolescents, Department of Hematology and Oncology, University Hospital Erlangen, Erlangen, Germany., Holzinger D; Department of Pediatric Hematology-Oncology, University of Duisburg-Essen, Essen, Germany., Lehmberg K; Division of Pediatric Stem Cell Transplantation and Immunology, Department of Pediatric Hematology and Oncology, University Medical Center, Eppendorf, Hamburg, Germany., Svec P; Department of Pediatric Hematology and Oncology, National Institute of Children's Diseases, Bratislava, Slovakia; Faculty of Medicine, Comenius University, Bratislava, Slovakia., Masjosthusmann K; Department of General Pediatrics, University Hospital Muenster, Muenster, Germany., Hambleton S; Newcastle University Translational and Clinical Research Institute, Newcastle upon Tyne, UK; Newcastle University Translational and Clinical Research Institute, Great North Children's Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Jakob M; Department of Pediatric Hematology and Oncology, University Hospital Regensburg, Regensburg, Germany., Sparber-Sauer M; Stuttgart Cancer Center, Zentrum für Kinder-, Jugend- und Frauenmedizin, Pädiatrie 5, Klinikum Stuttgart, Stuttgart, Germany., Kager L; Department of Pediatrics, St Anna Children's Hospital, Medical University Vienna, Vienna, Austria; St Anna Children's Cancer Research Institute, Vienna, Austria., Puzik A; 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., Wolkewitz M; Institute of Medical Biometry and Statistics, Division Methods in Clinical Epidemiology, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany., Lorenz MR; Institute for Transfusion Medicine, University of Ulm, Ulm, Germany., Schwarz K; Institute for Transfusion Medicine, University of Ulm, Ulm, Germany; Institute for Clinical Transfusion Medicine and Immunogenetics Ulm, German Red Cross Blood Service Baden-Wuerttemberg-Hessen, Ulm, Germany., Speckmann C; 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., Rensing-Ehl A; Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Ehl S; Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany. Electronic address: stephan.ehl@uniklinik-freiburg.de.

مؤلفون مشاركون: ALPID study group

المصدر: The Lancet. Haematology [Lancet Haematol] 2024 Feb; Vol. 11 (2), pp. e114-e126.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Ltd Country of Publication: England NLM ID: 101643584 Publication Model: Print Cited Medium: Internet ISSN: 2352-3026 (Electronic) Linking ISSN: 23523026 NLM ISO Abbreviation: Lancet Haematol Subsets: MEDLINE

مواضيع طبية MeSH: Autoimmune Lymphoproliferative Syndrome*/diagnosis , Autoimmune Lymphoproliferative Syndrome*/genetics , Autoimmune Lymphoproliferative Syndrome*/therapy , Common Variable Immunodeficiency* , Anemia, Hemolytic, Autoimmune* , Thrombocytopenia*, Male ; Female ; Child ; Humans ; Child, Preschool ; Adolescent ; Prospective Studies ; Biomarkers ; Adaptor Proteins, Signal Transducing/genetics

SCR Disease Name: Evans Syndrome

المؤلفون: Rensing-Ehl A; Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany. Electronic address: anne.rensing-ehl@uniklinik-freiburg.de., Lorenz MR; Institute for Transfusion Medicine, University of Ulm, Ulm, Germany., Führer M; Institute for Clinical Transfusion Medicine and Immunogenetics Ulm, German Red Cross Blood Service Baden-Wuerttemberg - Hessen, Ulm, Germany., Willenbacher W; Clinic for Internal Medicine V, Hematology and Oncology, Medical University Innsbruck, Innsbruck, Austria; Syndena GmbH, Connect to cure, Innsbruck, Austria., Willenbacher E; Clinic for Internal Medicine V, Hematology and Oncology, Medical University Innsbruck, Innsbruck, Austria., Sopper S; Clinic for Internal Medicine V, Hematology and Oncology, Medical University Innsbruck, Innsbruck, Austria; Tyrolean Cancer Research Institute, Innsbruck, Austria., Abinun M; Paediatric Immunology, Great North Children's Hospital, Newcastle University, Newcastle upon Tyne, United Kingdom., Maccari ME; Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), 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, Mathildenstr. 1, Freiburg, Germany., König C; Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Faculty of Biology, University of Freiburg, Schaenzlestrasse 1, Freiburg, Germany., Haegele P; Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Fuchs S; Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Castro C; Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Kury P; Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Pelle O; Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, Université Paris Cité, INSERM UMR 1163, Imagine Institute, Paris, France., Klemann C; Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Heeg M; Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Thalhammer J; Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Paediatric Immunology, Great North Children's Hospital, Newcastle University, Newcastle upon Tyne, United Kingdom., Wegehaupt O; Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), 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, Mathildenstr. 1, Freiburg, Germany., Fischer M; Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), 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, Mathildenstr. 1, Freiburg, Germany., Goldacker S; Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Schulte B; Center for Human Genetics, Paul-Ehrlich-Str. 23, Tuebingen, Germany., Biskup S; Center for Human Genetics, Paul-Ehrlich-Str. 23, Tuebingen, Germany., Chatelain P; Center for Human Genetics, Paul-Ehrlich-Str. 23, Tuebingen, Germany., Schuster V; Children's Hospital, Faculty of Medicine, University of Leipzig, Leipzig, Germany., Warnatz K; Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Clinic for Rheumatolgy and Clinical Immunology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Grimbacher B; Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Clinic for Rheumatolgy 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; RESIST - Cluster of Excellence 2155 to Hannover Medical School, Satellite Center Freiburg, Freiburg, Germany., Meinhardt A; Center for Pediatrics and Adolescent Medicine, Department of Pediatric Oncology, Hematology and Immunodeficiencies, University Hospital Giessen, Giessen, Germany., Holzinger D; Department of Pediatric Hematology-Oncology, University of Duisburg-Essen, Essen, Germany; Department of Applied Health Sciences, University of Applied Sciences Bochum, Bochum, Germany., Oommen PT; Department of Pediatric Oncology, Hematology and Clinical Immunology, University Hospital, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany., Hinze T; Department of Pediatric Rheumatology and Immunology, University Hospital Münster, Münster, Germany., Hebart H; Department of Internal Medicine, Kliniken Ostalb, Stauferklinikum, Mutlangen, Germany., Seeger K; Charité Universitätsmedizin Berlin, Department of Pediatric Oncology/Hematology, Augustenburger Pl. 1, Berlin, Germany., Lehmberg K; Department of Paediatric Immunology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Leahy TR; Department of Paediatric Immunology/ID, Children's Health Ireland (CHI) at Crumlin, Dublin; University of Dublin, Trinity College, Dublin, Ireland., Claviez A; Department of Pediatrics, University Medical Center, UKSH Campus Kiel, Kiel, Germany., Vieth S; Department of Pediatrics, University Medical Center, UKSH Campus Kiel, Kiel, Germany., Schilling FH; Department of Pediatric Oncology-Hematology-Immunology, Children's Hospital Lucerne, Lucerne, Switzerland., Fuchs I; Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Groß M; Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Rieux-Laucat F; Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, Université Paris Cité, INSERM UMR 1163, Imagine Institute, Paris, France., Magerus A; Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, Université Paris Cité, INSERM UMR 1163, Imagine Institute, Paris, France., Speckmann C; Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), 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, Mathildenstr. 1, Freiburg, Germany., Schwarz K; Institute for Transfusion Medicine, University of Ulm, Ulm, Germany; Institute for Clinical Transfusion Medicine and Immunogenetics Ulm, German Red Cross Blood Service Baden-Wuerttemberg - Hessen, Ulm, Germany., Ehl S; Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

مؤلفون مشاركون: ALPS Study Group

المصدر: The Journal of allergy and clinical immunology [J Allergy Clin Immunol] 2024 Jan; Vol. 153 (1), pp. 297-308.e12. Date of Electronic Publication: 2023 Nov 17.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Mosby Country of Publication: United States NLM ID: 1275002 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-6825 (Electronic) Linking ISSN: 00916749 NLM ISO Abbreviation: J Allergy Clin Immunol Subsets: MEDLINE

مواضيع طبية MeSH: Autoimmune Lymphoproliferative Syndrome*/diagnosis , Autoimmune Lymphoproliferative Syndrome*/genetics , fas Receptor*/genetics, Humans ; Biomarkers ; DNA Copy Number Variations ; Exome Sequencing ; Fas-Associated Death Domain Protein/genetics ; Mutation

المؤلفون: Fischer M; Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Division of Immunology and Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland; Department of Immunology, University Hospital Zurich, University of Zurich, Zurich, Switzerland., Olbrich P; Pediatric Infectious Diseases, Rheumatology and Immunology Unit, Hospital Universitario Virgen del Rocío, Instituto de Biomedicina de Sevilla, IBiS/ Universidad de Sevilla/CSIC, Red de Investigación Traslacional en Infectología Pediátrica RITIP, Seville, Spain; Departamento de Pediatría, Facultad de Medicina, Universidad de Sevilla, Seville, Spain., Hadjadj J; Sorbonne University, Department of Internal Medicine, APHP, Saint-Antoine Hospital, F-75012 Paris, France., Aumann V; Pediatric Oncology Department, Otto von Guericke University Children's Hospital Magdeburg, Magdeburg, Germany., Bakhtiar S; Division for Stem Cell Transplantation, Immunology and Intensive Care Medicine, Department for Children and Adolescents Medicine, University Hospital Frankfurt, Frankfurt am Main, Germany., Barlogis V; Pediatric Hematology Unit, Latimone University Hospital, Marseille, France., von Bismarck P; Clinic for General Pediatrics, University Hospital Schleswig-Holstein, Kiel, Germany., Bloomfield M; Department of Immunology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital in Motol, 1st Faculty of Medicine, Charles University in Prague, Prague, Czech Republic., Booth C; Department of Paediatric Immunology and Gene Therapy, Great Ormond Street Hospital London, London, England, United Kingdom., Buddingh EP; Willem-Alexander Children's Hospital, Department of Pediatrics, Pediatric Stem cell Transplantation program, Leiden University Medical Center, Leiden, The Netherlands., Cagdas D; Department of Pediatric Immunology, Hacettepe University Medical School, Ankara, Turkey., Castelle M; Immuno-hematology and Rheumatology Unit, Necker Children's Hospital, Assistance Publique-Hôpitaux de Paris, Université de Paris, INSERM 1163, Institut Imagine, Paris, Île-de-France, France., Chan AY; Division of Allergy, Immunology, Bone Marrow Transplantation, Department of Pediatrics, University of California, San Francisco, Calif., Chandrakasan S; Aflac Cancer and Blood Disorder Center, Department of Pediatrics, Children's Healthcare of Atlanta, Emory University School of Medicine, Atlanta, Ga., Chetty K; Department of Paediatric Immunology and Gene Therapy, Great Ormond Street Hospital London, London, England, United Kingdom., Cougoul P; Oncopole, Institut Universitaire du cancer de toulouse, Toulouse, France., Crickx E; Internal Medicine Department, Centre Hospitalier Universitaire Henri-Mondor, Assistance Publique-Hôpitaux de Paris (AP-HP), Université Paris-Est Créteil (UPEC), Créteil, France., Dara J; Division of Allergy, Immunology, Bone Marrow Transplantation, Department of Pediatrics, University of California, San Francisco, Calif., Deyà-Martínez A; Clinical Immunology and Primary Immunodeficiencies Unit, Pediatric Allergy and Clinical Immunology Department, Hospital Sant Joan de Déu, Barcelona, Spain; Universitat de Barcelona Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Farmand S; Division of Pediatric Stem Cell Transplantation and Immunology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Formankova R; Department of Paediatric Haematology and Oncology, Motol University Hospital and 2nd Faculty of Medicine, Charles University, Prague, Czech Republic., Gennery AR; Children's Hematopoietic Stem Cell Transplant Unit, Great North Children's Hospital, Newcastle upon Tyne, England, United Kingdom., Gonzalez-Granado LI; Primary Immunodeficiencies Unit, Department of Pediatrics, Hospital 12 Octubre Research Institute, Hospital 12 Octubre (i+12) Complutense University School of Medicine, Madrid, Spain., Hagin D; Allergy and Clinical Immunology Unit, Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel., Hanitsch LG; Institute of Medical Immunology, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt Universität zu Berlin and the Berlin Institute of Health (BIH), BIH Center for Regenerative Therapies, Berlin, Germany., Hanzlikovà J; Department of Immunology and Allergology, Faculty of Medicine and Faculty Hospital, Pilsen, Czech Republic., Hauck F; Department of Pediatrics, Dr von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany., Ivorra-Cortés J; Rheumatology Department, Hospital Universitari i Politècnic La Fe, Valencia, Spain., Kisand K; Institute of Biomedicine and Translational Medicine, University of Tartu, Tartu, Estonia., Kiykim A; Istanbul University-Cerrahpasa, Pediatric Immunology and Allergy, Istanbul, Turkey., Körholz J; Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany., Leahy TR; Children's Health Ireland, Crumlin, Dublin, Ireland; University of Dublin, Trinity College, Dublin, Ireland., van Montfrans J; Department of Pediatric Immunology and Infectious Diseases, Wilhelmina's Children Hospital, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Nademi Z; Children's Hematopoietic Stem Cell Transplant Unit, Great North Children's Hospital, Newcastle upon Tyne, England, United Kingdom., Nelken B; Pediatric Hematology Unit, Centre Hospitalier Universitaire Regional de Lille, Lille, France., Parikh S; Aflac Cancer and Blood Disorder Center, Department of Pediatrics, Children's Healthcare of Atlanta, Emory University School of Medicine, Atlanta, Ga., Plado S; Department of Pediatrics, Tallinn Children's Hospital, Tallinn, Estonia., Ramakers J; Department of Pediatrics. Hospital Universitari Son Espases, Palma, Spain; Multidisciplinary Group for Research in Pediatrics, Hospital Universtari Son Espases, Balearic Island Health Research Institute (IdISBa), Palma, Spain., Redlich A; Pediatric Oncology Department, Otto von Guericke University Children's Hospital Magdeburg, Magdeburg, Germany., Rieux-Laucat F; Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, Institut Imagine, INSERM, UMR 1163, Paris, France., Rivière JG; Pediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., Rodina Y; Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology, and Immunology, Moscow, Russia., Júnior PR; Division of Pediatric Immunology and Allergy, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil., Salou S; 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., Schuetz C; Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany., Shcherbina A; Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology, and Immunology, Moscow, Russia., Slatter MA; Children's Hematopoietic Stem Cell Transplant Unit, Great North Children's Hospital, Newcastle upon Tyne, England, United Kingdom., Touzot F; Department of Pediatrics, CHU Ste-Justine, Université de Montréal, Montreal, Canada., Unal E; Department of Pediatric Hematology and Oncology, Faculty of Medicine, Erciyes University, Kayseri, Turkey., Lankester AC; Willem-Alexander Children's Hospital, Department of Pediatrics, Pediatric Stem cell Transplantation program, Leiden University Medical Center, Leiden, The Netherlands., Burns S; Institute of Immunity and Transplantation, University College London, London, England, United Kingdom., Seppänen MRJ; The Rare Disease and Pediatric Research Centers, Hospital for Children and Adolescents and Adult Immunodeficiency Unit, Inflammation Center, University of Helsinki and HUS Helsinki, University Hospital, Helsinki, Finland., Neth O; Pediatric Infectious Diseases, Rheumatology and Immunology Unit, Hospital Universitario Virgen del Rocío, Instituto de Biomedicina de Sevilla, IBiS/ Universidad de Sevilla/CSIC, Red de Investigación Traslacional en Infectología Pediátrica RITIP, Seville, Spain., Albert MH; Department of Pediatrics, Dr von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany., Ehl S; Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Neven B; Immuno-hematology and Rheumatology Unit, Necker Children's Hospital, Assistance Publique-Hôpitaux de Paris, Université de Paris, INSERM 1163, Institut Imagine, Paris, Île-de-France, France., Speckmann C; Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center, 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: carsten.speckmann@uniklinik-freiburg.de.

المصدر: The Journal of allergy and clinical immunology [J Allergy Clin Immunol] 2024 Jan; Vol. 153 (1), pp. 275-286.e18. Date of Electronic Publication: 2023 Nov 05.

نوع المنشور: Multicenter Study; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Mosby Country of Publication: United States NLM ID: 1275002 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-6825 (Electronic) Linking ISSN: 00916749 NLM ISO Abbreviation: J Allergy Clin Immunol Subsets: MEDLINE

مواضيع طبية MeSH: Janus Kinase Inhibitors*/therapeutic use , Immunologic Deficiency Syndromes*/therapy, Child ; Humans ; Retrospective Studies ; Prospective Studies ; Treatment Outcome

المؤلفون: Trayer J; Department of Paediatric Immunology, Children's Health Ireland at Crumlin, Dublin, Ireland. trayerj@tcd.ie., Browne F; Department of Paediatric Dermatology, Children's Health Ireland at Crumlin, Dublin, Ireland., O'Sullivan M; Department of Histopathology, Children's Health Ireland at Crumlin, Dublin, Ireland.; Trinity College Dublin, Dublin, Ireland., Leahy TR; Department of Paediatric Immunology, Children's Health Ireland at Crumlin, Dublin, Ireland.; Trinity College Dublin, Dublin, Ireland.

المصدر: Journal of clinical immunology [J Clin Immunol] 2023 Oct; Vol. 43 (7), pp. 1537-1539. Date of Electronic Publication: 2023 Jun 28.

نوع المنشور: Letter

بيانات الدورية: Publisher: Springer Country of Publication: Netherlands NLM ID: 8102137 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2592 (Electronic) Linking ISSN: 02719142 NLM ISO Abbreviation: J Clin Immunol Subsets: MEDLINE

مواضيع طبية MeSH: Autoimmune Lymphoproliferative Syndrome*/diagnosis , Autoimmune Lymphoproliferative Syndrome*/drug therapy , Autoimmune Lymphoproliferative Syndrome*/genetics , Autoimmune Diseases* , Lymphoproliferative Disorders*/diagnosis , Lymphoproliferative Disorders*/drug therapy, Humans ; Child ; Sirolimus/adverse effects ; fas Receptor/genetics ; Apoptosis