Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity: A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Genome Diagnostic Centers

Autor: Kim Elsink, Manon M. H. Huibers, Iris H. I. M. Hollink, Annet Simons, Evelien Zonneveld-Huijssoon, Lars T. van der Veken, Helen L. Leavis, Stefanie S. V. Henriet, Marcel van Deuren, Frank L. van de Veerdonk, Judith Potjewijd, Dagmar Berghuis, Virgil A. S. H. Dalm, Clementien L. Vermont, Annick A. J. M. van de Ven, Annechien J. A. Lambeck, Kristin M. Abbott, P. Martin van Hagen, Godelieve J. de Bree, Taco W. Kuijpers, Geert W. J. Frederix, Mariëlle E. van Gijn, Joris M. van Montfrans, the Genetics First for Primary Immunodeficiency Disorders Consortium, Aerde van, KJ, Altenburg, J, Armbrust W, Barendregt, BH, Berg van den, JM, Bredius, RGM, Buddingh, EP, Burg van der, M, Ellerbroek, PM, Ernst, RF, Fraaij, PLA, Hermans, M, Hoischen, A, Hout van der, AH, Jansen, MHA, Jolink, H, Jonkers, RE, Laar van, JAM, Leeuw de, K, Legger, GE, Leijten, EFA, Limper, M, Lindemans, CA, Oever ten, J, Pieterse, M, Rombach, SM, Rossum van, AMC, Rutgers, A, Santen, GWE, Schölvinck, EH, Simon, A, Stol, K, Vervenne RML

Publikováno v: Frontiers in Immunology, Vol 12 (2021)

ObjectiveInborn errors of immunity (IEI) are a heterogeneous group of disorders, affecting different components of the immune system. Over 450 IEI related genes have been identified, with new genes continually being recognized. This makes the early a

Externí odkaz: https://doaj.org/article/1589a20c7b90482f8384cabc050aeb63

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Association of busulfan exposure and outcomes after HCT for patients with an inborn error of immunity.

Autor: Bognàr T; Department of Clinical Pharmacy, University Medical Center Utrecht/Wilhelmina Children's Hospital, Utrecht, The Netherlands., Garcia-Rosa M; Transplantation and Cellular Therapies, MSK Kids, Memorial Sloan Kettering Cancer Center, New York, NY., Lalmohamed A; Department of Clinical Pharmacy, University Medical Center Utrecht/Wilhelmina Children's Hospital, Utrecht, The Netherlands.; Division of Pharmacoepidemiology and Clinical Pharmacology, Utrecht Institute for Pharmaceutical Sciences, Utrecht University, Utrecht, The Netherlands., Güngör T; Division of Stem Cell Transplantation and Children's Research Center, University Children's Hospital Zürich, University of Zürich, Zürich, Switzerland., Hauri-Hohl M; Division of Stem Cell Transplantation and Children's Research Center, University Children's Hospital Zürich, University of Zürich, Zürich, Switzerland., Prockop S; Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Boston, MA., Oram L; Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Boston, MA., Pai SY; Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Boston, MA.; Center for Cancer Research, National Cancer Institute, National Institutes of Health., Brooks J; Division of Allergy, Immunology, and Bone Marrow Transplantation, Department of Clinical Pharmacy and Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, CA., Savic RM; Division of Allergy, Immunology, and Bone Marrow Transplantation, Department of Clinical Pharmacy and Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, CA., Dvorak CC; Division of Allergy, Immunology, and Bone Marrow Transplantation, Department of Clinical Pharmacy and Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, CA., Long-Boyle JR; Division of Allergy, Immunology, and Bone Marrow Transplantation, Department of Clinical Pharmacy and Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, CA., Krajinovic M; Centre de Cancérologie Charles-Bruneau, Centre de recherche, Hospital Sainte-Justine Montréal, Montréal, QC, Canada., Bittencourt H; Centre de Cancérologie Charles-Bruneau, Centre de recherche, Hospital Sainte-Justine Montréal, Montréal, QC, Canada., Teyssier AC; Centre de Cancérologie Charles-Bruneau, Centre de recherche, Hospital Sainte-Justine Montréal, Montréal, QC, Canada., Théorêt Y; Centre de Cancérologie Charles-Bruneau, Centre de recherche, Hospital Sainte-Justine Montréal, Montréal, QC, Canada., Martinez C; Center for Cell and Gene Therapy, Baylor College of Medicine, Texas Children's Hospital, Houston, TX., Egberts TCG; Department of Clinical Pharmacy, University Medical Center Utrecht/Wilhelmina Children's Hospital, Utrecht, The Netherlands.; Division of Pharmacoepidemiology and Clinical Pharmacology, Utrecht Institute for Pharmaceutical Sciences, Utrecht University, Utrecht, The Netherlands., Morales E; Center for Cell and Gene Therapy, Baylor College of Medicine, Texas Children's Hospital, Houston, TX., Slatter M; Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle, United Kingdom., Cuvelier GDE; Pediatric Blood and Marrow Transplantation, CancerCare Manitoba, University of Manitoba, Winnipeg, MB, Canada., Chiesa R; Great Ormond Street Hospital for Children & Stem Cell Program, London, United Kingdom., Wynn RF; Department of Blood and Marrow Transplant, Royal Manchester Children's Hospital, Manchester, United Kingdom., Coussons M; Department of Blood and Marrow Transplant, Royal Manchester Children's Hospital, Manchester, United Kingdom., Cicalese MP; San Raffaele Telethon Institute for Gene Therapy, IRCCS San Raffaele Scientific Institute, Milan, Italy.; Faculty of Medicine and Surgery, Vita-Salute S. Raffaele University, Milan, Italy.; Pediatric Immunohematology and Bone Marrow Transplantation Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy., Ansari M; Cansearch Research Platform in Pediatric Oncology and Hematology, Faculty of Medicine, Department of Pediatrics, Gynecology and Obstetrics, University of Geneva, Geneva, Switzerland.; Division of Pediatric Oncology and Hematology, Department of Women, Child and Adolescent, University Geneva Hospitals, Geneva, Switzerland., Long SE; Division of Pediatric Blood and Marrow Transplant & Cellular Therapy, M Health Fairview Masonic Children's Hospital, University of Minnesota, Minneapolis, MN., Ebens CL; Division of Pediatric Blood and Marrow Transplant & Cellular Therapy, M Health Fairview Masonic Children's Hospital, University of Minnesota, Minneapolis, MN., Lust H; Stem Cell Transplant Program, Ann & Robert Lurie Children's Hospital, Northwestern University, Chicago, IL., Chaudhury S; Stem Cell Transplant Program, Ann & Robert Lurie Children's Hospital, Northwestern University, Chicago, IL., Nath CE; Children's Hospital at Westmead, Sydney, Australia., Shaw PJ; Children's Hospital at Westmead, Sydney, Australia., Keogh SJ; Children's Hospital at Westmead, Sydney, Australia., van der Stoep MYEC; Department of Pediatrics, Willem Alexander Children's Hospital, Leiden University Medical Center, Leiden, The Netherlands.; Department of Clinical Pharmacy and Toxicology, Leiden University Medical Center, Leiden, The Netherlands.; Center for Cell and Gene Therapy, Leiden University Medical Center, Leiden, The Netherlands., Bredius R; Department of Pediatrics, Willem Alexander Children's Hospital, Leiden University Medical Center, Leiden, The Netherlands., Lindemans CA; Department of Pediatrics, University Medical Center Utrecht, Utrecht, The Netherlands.; Princess Máxima Center Utrecht, Utrecht, The Netherlands., Boelens JJ; Transplantation and Cellular Therapies, MSK Kids, Memorial Sloan Kettering Cancer Center, New York, NY., Bartelink IH; Amsterdam University Medical Center, Location VUmc, Amsterdam, The Netherlands.; Cancer Center Amsterdam, Imaging and Biomarkers, Amsterdam, The Netherlands.

Publikováno v: Blood advances [Blood Adv] 2024 Oct 08; Vol. 8 (19), pp. 5137-5145.

IFNγ induces epithelial reprogramming driving CXCL11-mediated T cell migration.

Autor: Cutilli A; Regenerative Medicine Center, University Medical Center Utrecht, Utrecht, The Netherlands.; Center of Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands., Jansen SA; Regenerative Medicine Center, University Medical Center Utrecht, Utrecht, The Netherlands.; Division of Pediatrics, University Medical Center Utrecht, Utrecht, The Netherlands.; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., Paolucci F; Regenerative Medicine Center, University Medical Center Utrecht, Utrecht, The Netherlands.; Center of Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands., van Hoesel M; Regenerative Medicine Center, University Medical Center Utrecht, Utrecht, The Netherlands.; Division of Pediatrics, University Medical Center Utrecht, Utrecht, The Netherlands.; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., Fredericks CL; Regenerative Medicine Center, University Medical Center Utrecht, Utrecht, The Netherlands.; Center of Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands., Mulder TAM; Center of Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands., Chalkiadakis T; Center of Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands., Mokry M; Division of Pediatrics, University Medical Center Utrecht, Utrecht, The Netherlands.; Department of Cardiology, University Medical Center Utrecht, Utrecht, The Netherlands., Prekovic S; Center of Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands., Mocholi E; Regenerative Medicine Center, University Medical Center Utrecht, Utrecht, The Netherlands.; Center of Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands., Lindemans CA; Regenerative Medicine Center, University Medical Center Utrecht, Utrecht, The Netherlands.; Division of Pediatrics, University Medical Center Utrecht, Utrecht, The Netherlands.; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., Coffer PJ; Regenerative Medicine Center, University Medical Center Utrecht, Utrecht, The Netherlands.; Center of Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands.; Division of Pediatrics, University Medical Center Utrecht, Utrecht, The Netherlands.

Publikováno v: Journal of leukocyte biology [J Leukoc Biol] 2024 Sep 20. Date of Electronic Publication: 2024 Sep 20.