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المؤلفون: Venema WJ; Department of Ophthalmology, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands; Center for Translational Immunology, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Hiddingh S; Department of Ophthalmology, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands; Center for Translational Immunology, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., van Loosdregt J; Center for Translational Immunology, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Bowes J; Centre for Genetics and Genomics Versus Arthritis, Centre for Musculoskeletal Research, Manchester Academic Health Science Centre, The University of Manchester, Manchester, UK., Balliu B; Department of Computational Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA., de Boer JH; Department of Ophthalmology, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Ossewaarde-van Norel J; Department of Ophthalmology, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Thompson SD; Department of Pediatrics, University of Cincinnati College of Medicine, Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Langefeld CD; Department of Biostatistics and Data Science, and Center for Precision Medicine, Wake Forest University School of Medicine, Winston-Salem, NC, USA., de Ligt A; Department of Ophthalmology, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands; Center for Translational Immunology, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., van der Veken LT; Department of Genetics, Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Krijger PHL; Oncode Institute, Hubrecht Institute-KNAW and University Medical Center Utrecht, 3584 CT Utrecht, the Netherlands., de Laat W; Oncode Institute, Hubrecht Institute-KNAW and University Medical Center Utrecht, 3584 CT Utrecht, the Netherlands., Kuiper JJW; Department of Ophthalmology, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands; Center for Translational Immunology, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands. Electronic address: j.j.w.kuiper@umcutrecht.nl.

المصدر: Cell genomics [Cell Genom] 2024 Jan 10; Vol. 4 (1), pp. 100460. Date of Electronic Publication: 2023 Dec 05.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier, Inc Country of Publication: United States NLM ID: 9918284260106676 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-979X (Electronic) Linking ISSN: 2666979X NLM ISO Abbreviation: Cell Genom Subsets: MEDLINE

مواضيع طبية MeSH: Polymorphism, Single Nucleotide*/genetics , Autoimmune Diseases*/genetics, Humans ; Genetic Predisposition to Disease/genetics ; Promoter Regions, Genetic/genetics ; Aminopeptidases/genetics

المؤلفون: Erkens RGA; University Medical Center Utrecht and University of Utrecht, Utrecht, The Netherlands., Calis JJA; University Medical Center Utrecht and University of Utrecht, Utrecht, The Netherlands., Verwoerd A; University Medical Center Utrecht and University of Utrecht, Utrecht, The Netherlands., De Roock S; University Medical Center Utrecht and University of Utrecht, Utrecht, The Netherlands., Ter Haar NM; University Medical Center Utrecht and University of Utrecht, Utrecht, The Netherlands., Den Engelsman G; University Medical Center Utrecht and University of Utrecht, Utrecht, The Netherlands., Van der Veken LT; University Medical Center Utrecht and University of Utrecht, Utrecht, The Netherlands., Ernst RF; University Medical Center Utrecht and University of Utrecht, Utrecht, The Netherlands., Van Deutekom HWM; University Medical Center Utrecht and University of Utrecht, Utrecht, The Netherlands., Pickering A; Harvard Medical School, Boston, Massachusetts., Scholman RC; University Medical Center Utrecht and University of Utrecht, Utrecht, The Netherlands., Jansen MHA; University Medical Center Utrecht and University of Utrecht, Utrecht, The Netherlands., Swart JF; University Medical Center Utrecht and University of Utrecht, Utrecht, The Netherlands., Sinha R; Systemic Juvenile Idiopathic Arthritis Foundation, Cincinnati, Ohio., Roth J; University of Münster, Münster, Germany., Schulert GS; Cincinnati Children's Hospital and University of Cincinnati College of Medicine, Cincinnati, Ohio., Grom AA; Cincinnati Children's Hospital and University of Cincinnati College of Medicine, Cincinnati, Ohio., Van Loosdregt J; University Medical Center Utrecht and University of Utrecht, Utrecht, The Netherlands., Vastert SJ; University Medical Center Utrecht and University of Utrecht, Utrecht, The Netherlands.

المصدر: Arthritis & rheumatology (Hoboken, N.J.) [Arthritis Rheumatol] 2024 Jan; Vol. 76 (1), pp. 119-129. Date of Electronic Publication: 2023 Nov 06.

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

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 101623795 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2326-5205 (Electronic) Linking ISSN: 23265191 NLM ISO Abbreviation: Arthritis Rheumatol Subsets: MEDLINE

مواضيع طبية MeSH: Arthritis, Juvenile*/drug therapy , Arthritis, Juvenile*/genetics , Biological Products*/therapeutic use , Eosinophilia*/drug therapy, Humans ; Interleukin 1 Receptor Antagonist Protein/genetics ; Interleukin 1 Receptor Antagonist Protein/therapeutic use ; HLA-DRB1 Chains/genetics ; Prospective Studies ; Receptors, Interleukin-1/therapeutic use

المؤلفون: Andriessen MVE; Department of Pediatric Immunology and Infectious Diseases, University Medical Center Utrecht, Utrecht University, PO Box 85050, 3508 GA, Utrecht, the Netherlands., Legger GE; Department of Pediatric Rheumatology, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands., Bredius RGM; Department of Pediatrics, Willem-Alexander Children's Hospital, Leiden University Medical Center, Leiden, the Netherlands., van Gijn ME; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands., Hak AE; Departments of Internal Medicine and Rheumatology and Clinical Immunology, Amsterdam UMC, Amsterdam, the Netherlands., Muller PCEH; Department of Pediatrics, Willem-Alexander Children's Hospital, Leiden University Medical Center, Leiden, the Netherlands., Kamphuis S; Department of Pediatric Rheumatology, Sophia Children's Hospital, Erasmus MC University Centre, Rotterdam, the Netherlands., Klouwer FCC; Department of Neurology and Pediatric Neurology, Location AMC, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands., Kuijpers TW; Department of Pediatric Immunology, Rheumatology and Infectious Diseases, Emma Children's Hospital, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands., Leavis HL; Department of Rheumatology & Clinical Immunology, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Nierkens S; Center for Translational Immunology, University Medical Center Utrecht & Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands., Rutgers A; Department of Rheumatology and Clinical Immunology, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands., van der Veken LT; Department of Genetics, Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., van Well GTJ; Department of Pediatrics: Division of Pediatric Infectious Diseases, Immunology and Rheumatology, Maastricht University Medical Center, Maastricht, the Netherlands., Mulders-Manders CM; Department of Internal Medicine, Radboud Expertise Center for Immunodeficiency and Autoinflammation, Radboud University Medical Center, Nijmegen, the Netherlands., van Montfrans JM; Department of Pediatric Immunology and Infectious Diseases, University Medical Center Utrecht, Utrecht University, PO Box 85050, 3508 GA, Utrecht, the Netherlands. j.vanmontfrans@umcutrecht.nl.

المصدر: Journal of clinical immunology [J Clin Immunol] 2023 Oct; Vol. 43 (7), pp. 1581-1596. Date of Electronic Publication: 2023 Jun 05.

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

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: Stroke* , Lymphohistiocytosis, Hemophagocytic*, Humans ; Adult ; Adenosine Deaminase/genetics ; Follow-Up Studies ; Retrospective Studies ; Intercellular Signaling Peptides and Proteins/genetics ; Mutation/genetics

المؤلفون: Hoffman TW; Department of Pulmonology, St. Antonius Hospital, Koekoekslaan 1, 3435 CM, Nieuwegein, Netherlands., Leavis HL; Department of Rheumatology and Clinical Immunology, University Medical Center Utrecht, Utrecht University, Heidelberglaan 100, 3584 CX, Utrecht, Netherlands., Smits BM; Department of Rheumatology and Clinical Immunology, University Medical Center Utrecht, Utrecht University, Heidelberglaan 100, 3584 CX, Utrecht, Netherlands., van der Veken LT; Department of Genetics, Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, Utrecht University, Heidelberglaan 100, 3584 CX, Utrecht, Netherlands., van Kessel DA; Department of Pulmonology, St. Antonius Hospital, Koekoekslaan 1, 3435 CM, Nieuwegein, Netherlands.; Department of Pulmonology, Division of Heart and Lungs, University Medical Center Utrecht, Utrecht University, Heidelberglaan 100, 3584 CX, Utrecht, Netherlands.

المصدر: Case reports in immunology [Case Reports Immunol] 2023 May 22; Vol. 2023, pp. 3977739. Date of Electronic Publication: 2023 May 22 (Print Publication: 2023).

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Hindawi Publishing Corporation Country of Publication: Egypt NLM ID: 101622188 Publication Model: eCollection Cited Medium: Print ISSN: 2090-6609 (Print) Linking ISSN: 20906617 NLM ISO Abbreviation: Case Reports Immunol Subsets: PubMed not MEDLINE

المؤلفون: Smits BM; Department of Pediatric Immunology and Infectious Diseases, Utrecht University, University Medical Center (UMC) Utrecht, The Netherlands.; Center for Translational Immunology, Utrecht University, University Medical Center (UMC) Utrecht, The Netherlands., Hartley T; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, ON, Canada., Dünnebach E; Center for Translational Immunology, Utrecht University, University Medical Center (UMC) Utrecht, The Netherlands., Bartels M; Department of Pediatric Hematology, Utrecht University, University Medical Center (UMC) Utrecht, The Netherlands., Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, ON, Canada.; Division of Infectious Diseases, Immunology and Allergy, Children's Hospital of Eastern Ontario, University of Ottawa, ON, Canada., Kernohan KD; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, ON, Canada.; Newborn Screening Ontario, ON, Canada., Dyment DA; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, ON, Canada.; Division of Infectious Diseases, Immunology and Allergy, Children's Hospital of Eastern Ontario, University of Ottawa, ON, Canada., Giltay JC; Department of Genetics, Division Laboratories, Pharmacy and Biomedical Genetics, Utrecht University, University Medical Center (UMC) Utrecht, The Netherlands., Haddad E; Department of Pediatrics, University of Montreal, CHU Sainte-Justine, Montreal, QC, Canada., Jarinova O; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, ON, Canada.; Division of Infectious Diseases, Immunology and Allergy, Children's Hospital of Eastern Ontario, University of Ottawa, ON, Canada., van Montfrans J; Department of Pediatric Immunology and Infectious Diseases, Utrecht University, University Medical Center (UMC) Utrecht, The Netherlands., van Royen-Kerkhof A; Department of Pediatric Immunology and Infectious Diseases, Utrecht University, University Medical Center (UMC) Utrecht, The Netherlands., van der Veken LT; Department of Genetics, Division Laboratories, Pharmacy and Biomedical Genetics, Utrecht University, University Medical Center (UMC) Utrecht, The Netherlands., de Witte M; Department of Hematology, Utrecht University, University Medical Center (UMC) Utrecht, The Netherlands., Nierkens S; Center for Translational Immunology, Utrecht University, University Medical Center (UMC) Utrecht, The Netherlands.; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., Pham-Huy A; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, ON, Canada.; Division of Infectious Diseases, Immunology and Allergy, Children's Hospital of Eastern Ontario, University of Ottawa, ON, Canada., Leavis HL; Department of Rheumatology & Clinical Immunology, Utrecht University, University Medical Center (UMC) Utrecht, The Netherlands.

المصدر: HemaSphere [Hemasphere] 2022 Sep 21; Vol. 6 (10), pp. e774. Date of Electronic Publication: 2022 Sep 21 (Print Publication: 2022).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 101740619 Publication Model: eCollection Cited Medium: Internet ISSN: 2572-9241 (Electronic) Linking ISSN: 25729241 NLM ISO Abbreviation: Hemasphere Subsets: PubMed not MEDLINE

المؤلفون: Verberne EA; Department of Human Genetics and Amsterdam Reproduction & Development research institute, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Westermann JM; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., de Vries TI; Department of Medical Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Ecury-Goossen GM; Department of Pediatrics, Curaçao Medical Center, Willemstad, Curaçao., Lo-A-Njoe SM; Department of Pediatrics, Curaçao Medical Center, Willemstad, Curaçao., Manshande ME; Department of Pediatrics, Curaçao Medical Center, Willemstad, Curaçao., Faries S; Department of Pediatrics, Curaçao Medical Center, Willemstad, Curaçao., Veenhuis HD; Department of Pediatrics, Curaçao Medical Center, Willemstad, Curaçao., Philippi P; Department of Pediatrics, Curaçao Medical Center, Willemstad, Curaçao., Falix FA; Department of Pediatrics, Curaçao Medical Center, Willemstad, Curaçao., Rosina-Angelista I; Department of Pediatrics, Curaçao Medical Center, Willemstad, Curaçao., Ponson-Wever M; Department of Pediatrics, Dr. Horacio E. Oduber Hospital, Oranjestad, Aruba., Rafael-Croes L; Department of Pediatrics, Dr. Horacio E. Oduber Hospital, Oranjestad, Aruba., Thorsen P; Department of Pediatrics, Dr. Horacio E. Oduber Hospital, Oranjestad, Aruba., Arends E; Department of Pediatrics, Dr. Horacio E. Oduber Hospital, Oranjestad, Aruba., de Vroomen M; Department of Pediatrics, Fundashon Mariadal, Kralendijk, Bonaire, The Netherlands.; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Nagelkerke SQ; Department of Pediatrics, Fundashon Mariadal, Kralendijk, Bonaire, The Netherlands.; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Tilanus M; Department of Pediatrics, St. Maarten Medical Center, Cay Hill, St. Maarten., van der Veken LT; Department of Genetics, Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Huijsdens-van Amsterdam K; Department of Genetics, Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., van der Kevie-Kersemaekers AM; Department of Human Genetics and Amsterdam Reproduction & Development research institute, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Alders M; Department of Human Genetics and Amsterdam Reproduction & Development research institute, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Mannens MMAM; Department of Human Genetics and Amsterdam Reproduction & Development research institute, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., van Haelst MM; Department of Human Genetics and Amsterdam Reproduction & Development research institute, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Jun; Vol. 188 (6), pp. 1777-1791. Date of Electronic Publication: 2022 Mar 07.

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

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: DNA Copy Number Variations* , Intellectual Disability*/genetics, Caribbean Region/epidemiology ; Child ; Genetic Testing/methods ; Humans ; Retrospective Studies

المؤلفون: van der Made CI; Department of Internal Medicine and Radboud Center for Infectious Diseases, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Potjewijd J; Department of Internal Medicine, Maastricht University Medical Center+, Maastricht, The Netherlands., Hoogstins A; Department of Rheumatology and Clinical Immunology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Willems HPJ; Department of Internal Medicine, Maxima Medisch Centrum, Eindhoven, The Netherlands., Kwakernaak AJ; Department of Internal Medicine and Department of Rheumatology and Clinical Immunology, Amsterdam University Medical Center, location AMC/Meibergdreef, Amsterdam, The Netherlands., de Sevaux RGL; Department of Internal Medicine and Radboud Center for Infectious Diseases, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Nephrology, Radboud University Medical Center, Nijmegen, The Netherlands., van Daele PLA; Department of Internal Medicine and Department of Immunology, Erasmus Medical Center, Rotterdam, The Netherlands., Simons A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Heijstek M; Department of Rheumatology and Clinical Immunology, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Beck DB; National Human Genome Research Institute, National Institutes of Health, Bethesda, Md., Netea MG; Department of Internal Medicine and Radboud Center for Infectious Diseases, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., van Paassen P; Department of Internal Medicine, Maastricht University Medical Center+, Maastricht, The Netherlands., Elizabeth Hak A; Department of Internal Medicine and Department of Rheumatology and Clinical Immunology, Amsterdam University Medical Center, location AMC/Meibergdreef, Amsterdam, The Netherlands., van der Veken LT; Department of Genetics, Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., van Gijn ME; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Hoischen A; Department of Internal Medicine and Radboud Center for Infectious Diseases, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., van de Veerdonk FL; Department of Internal Medicine and Radboud Center for Infectious Diseases, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Leavis HL; Department of Rheumatology and Clinical Immunology, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Rutgers A; Department of Rheumatology and Clinical Immunology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. Electronic address: A.Rutgers@umcg.nl.

المصدر: The Journal of allergy and clinical immunology [J Allergy Clin Immunol] 2022 Jan; Vol. 149 (1), pp. 432-439.e4. Date of Electronic Publication: 2021 May 25.

نوع المنشور: Case Reports; Journal Article; Research Support, N.I.H., Intramural; 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: Hereditary Autoinflammatory Diseases/*genetics , Myelodysplastic Syndromes/*genetics , Skin Diseases, Genetic/*genetics , Ubiquitin-Activating Enzymes/*genetics, Adult ; Age of Onset ; Aged ; Hereditary Autoinflammatory Diseases/diagnosis ; Humans ; Male ; Middle Aged ; Mutation ; Myelodysplastic Syndromes/diagnosis ; Netherlands ; Retrospective Studies ; Skin Diseases, Genetic/diagnosis

SCR Disease Name: VEXAS syndrome

المؤلفون: Elsink K; Department of Pediatric Immunology and Infectious Diseases, Wilhelmina's Children Hospital, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands., Huibers MMH; Department of Genetics, Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands., Hollink IHIM; Department of Clinical Genetics, Erasmus Medical Center, Erasmus University Rotterdam, Rotterdam, Netherlands., Simons A; Department of Human Genetics, Nijmegen Center for Molecular Life Sciences, Radboud University Medical Centre, Radboud University, Nijmegen, Netherlands.; Radboud Institute for Oncology, Radboud University Medical Center, Radboud University, Nijmegen, Netherlands., Zonneveld-Huijssoon E; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands., van der Veken LT; Department of Genetics, Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands., Leavis HL; Department of Rheumatology and Clinical Immunology, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands., Henriet SSV; Department of Pediatric Infectious Diseases and Immunology, Amalia's Children Hospital, Radboud University Nijmegen Medical Centre, Radboud University, Nijmegen, Netherlands., van Deuren M; Department of Internal Medicine, Radboud University Medical Center, Radboud Center for Infectious Diseases, Nijmegen, Netherlands., van de Veerdonk FL; Department of Internal Medicine, Radboud University Medical Center, Radboud Center for Infectious Diseases, Nijmegen, Netherlands., Potjewijd J; Department of Nephrology and Clinical Immunology, Maastricht University Medical Center, Maastricht University, Maastricht, Netherlands., Berghuis D; Willem-Alexander Children's Hospital, Department of Pediatrics, Leiden University Medical Center, Leiden University, Leiden, Netherlands., Dalm VASH; Department of Internal Medicine, Division of Allergy & Clinical Immunology; Department of Immunology, Erasmus University Medical Center Rotterdam, Erasmus University Rotterdam, Rotterdam, Netherlands., Vermont CL; Department of Pediatric Infectious Diseases, Immunology and Rheumatology, Sophia Children's Hospital, Erasmus Medical Center, Erasmus University Rotterdam, Rotterdam, Netherlands., van de Ven AAJM; Department of Internal Medicine and Allergology, Rheumatology and Clinical Immunology, University Medical Center Groningen, Groningen, Netherlands., Lambeck AJA; Department of Laboratory Medicine, University Medical Center Groningen, University of Groningen, Groningen, Netherlands., Abbott KM; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands., van Hagen PM; Department of Internal Medicine, Division of Allergy & Clinical Immunology; Department of Immunology, Erasmus University Medical Center Rotterdam, Erasmus University Rotterdam, Rotterdam, Netherlands., de Bree GJ; Department of Internal Medicine, Institute for Infection and Immunity, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands., Kuijpers TW; Department of Pediatric Hematology, Immunology and Infectious Diseases, Emma Children's Hospital, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands., Frederix GWJ; Julius Center for Health Sciences and Primary Care, University Medical Centre Utrecht, Utrecht, Netherlands., van Gijn ME; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands., van Montfrans JM; Department of Pediatric Immunology and Infectious Diseases, Wilhelmina's Children Hospital, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands.

مؤلفون مشاركون: Genetics First for Primary Immunodeficiency Disorders Consortium

المصدر: Frontiers in immunology [Front Immunol] 2021 Dec 21; Vol. 12, pp. 780134. Date of Electronic Publication: 2021 Dec 21 (Print Publication: 2021).

نوع المنشور: Journal Article; Observational Study; 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: Genetic Testing/*statistics & numerical data , High-Throughput Nucleotide Sequencing/*statistics & numerical data , Molecular Diagnostic Techniques/*statistics & numerical data , Primary Immunodeficiency Diseases/*diagnosis, Adolescent ; Adult ; Aged ; Aged, 80 and over ; Child ; Child, Preschool ; Early Diagnosis ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Middle Aged ; Netherlands/epidemiology ; Prevalence ; Primary Immunodeficiency Diseases/epidemiology ; Primary Immunodeficiency Diseases/genetics ; Prospective Studies ; Time Factors ; Young Adult