Bioinformatic meta-analysis reveals novel differentially expressed genes and pathways in sarcoidosis.

Autor: van Wijck RTA; Department of Pathology & Clinical Bioinformatics, Erasmus MC University Medical Center, Rotterdam, Netherlands., Sharma HS; Department of Pathology & Clinical Bioinformatics, Erasmus MC University Medical Center, Rotterdam, Netherlands., Swagemakers SMA; Department of Pathology & Clinical Bioinformatics, Erasmus MC University Medical Center, Rotterdam, Netherlands., Dik WA; Laboratory Medical Immunology, Department of Immunology, Erasmus MC University Medical Center, Rotterdam, Netherlands., IJspeert H; Laboratory Medical Immunology, Department of Immunology, Erasmus MC University Medical Center, Rotterdam, Netherlands., Dalm VASH; Laboratory Medical Immunology, Department of Immunology, Erasmus MC University Medical Center, Rotterdam, Netherlands.; Department of Internal Medicine, Division of Allergy & Clinical Immunology, Erasmus MC University Medical Center, Rotterdam, Netherlands., van Daele PLA; Laboratory Medical Immunology, Department of Immunology, Erasmus MC University Medical Center, Rotterdam, Netherlands.; Department of Internal Medicine, Division of Allergy & Clinical Immunology, Erasmus MC University Medical Center, Rotterdam, Netherlands., van Hagen PM; Laboratory Medical Immunology, Department of Immunology, Erasmus MC University Medical Center, Rotterdam, Netherlands.; Department of Internal Medicine, Division of Allergy & Clinical Immunology, Erasmus MC University Medical Center, Rotterdam, Netherlands., van der Spek PJ; Department of Pathology & Clinical Bioinformatics, Erasmus MC University Medical Center, Rotterdam, Netherlands.

Publikováno v: Frontiers in medicine [Front Med (Lausanne)] 2024 Jun 13; Vol. 11, pp. 1381031. Date of Electronic Publication: 2024 Jun 13 (Print Publication: 2024).

Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome.

Autor: Kozycki CT; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, Maryland, USA christina.kozycki@nih.gov dan.kastner@nih.gov.; National Institute of Allergy and Infectious Diseases, Bethesda, Maryland, USA., Kodati S; National Eye Institute, Bethesda, Maryland, USA., Huryn L; National Eye Institute, Bethesda, Maryland, USA., Wang H; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, Maryland, USA., Warner BM; National Institute of Dental and Craniofacial Research, Bethesda, Maryland, USA., Jani P; National Institute of Dental and Craniofacial Research, Bethesda, Maryland, USA., Hammoud D; Radiology and Imaging Sciences, National Institutes of Health Clinical Center, Bethesda, Maryland, USA., Abu-Asab MS; Section of Histopathology, National Eye Institute, Bethesda, Maryland, USA., Jittayasothorn Y; National Eye Institute, Bethesda, Maryland, USA., Mattapallil MJ; National Eye Institute, Bethesda, Maryland, USA., Tsai WL; National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, Maryland, USA., Ullah E; Ophthalmic Genetics & Visual Function Branch, National Eye Institute, Bethesda, Maryland, USA., Zhou P; National Institute of Biological Sciences Beijing, Beijing, China., Tian X; National Institute of Biological Sciences Beijing, Beijing, China., Soldatos A; National Institute of Neurological Disorders and Stroke, Bethesda, Maryland, USA., Moutsopoulos N; National Institute of Dental and Craniofacial Research, Bethesda, Maryland, USA., Kao-Hsieh M; National Institute of Dental and Craniofacial Research, Bethesda, Maryland, USA., Heller T; National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, Maryland, USA., Cowen EW; Dermatology Branch, NIH, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, Maryland, USA., Lee CR; National Cancer Institute, Bethesda, Maryland, USA., Toro C; Undiagnosed Diseases Program, Bethesda, Maryland, USA.; National Human Genome Research Institute, Bethesda, Maryland, USA., Kalsi S; National Heart Lung and Blood Institute, Bethesda, Maryland, USA., Khavandgar Z; National Institute of Dental and Craniofacial Research, Bethesda, Maryland, USA., Baer A; National Institute of Dental and Craniofacial Research, Bethesda, Maryland, USA., Beach M; National Institute of Dental and Craniofacial Research, Bethesda, Maryland, USA., Long Priel D; Neutrophil Monitoring Laboratory, Applied/Developmental Research Directorate, Frederick National Laboratory for Cancer Research, Frederick, Maryland, USA., Nehrebecky M; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, Maryland, USA., Rosenzweig S; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, Maryland, USA., Romeo T; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, Maryland, USA., Deuitch N; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, Maryland, USA.; Oncogenesis and Development Section, National Human Genome Research Institute, Bethesda, Maryland, USA., Brenchley L; National Institute of Dental and Craniofacial Research, Bethesda, Maryland, USA., Pelayo E; National Institute of Dental and Craniofacial Research, Bethesda, Maryland, USA., Zein W; National Eye Institute, Bethesda, Maryland, USA., Sen N; National Eye Institute, Bethesda, Maryland, USA., Yang AH; National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, Maryland, USA., Farley G; Drs. Gilbert and Farley, OD, PC, Colonial Heights, Virginia, USA., Sweetser DA; Massachusetts General Hospital Center for Genomic Medicine, Boston, Massachusetts, USA.; Division of Medical Genetics & Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA., Briere L; Massachusetts General Hospital Center for Genomic Medicine, Boston, Massachusetts, USA., Yang J; Massachusetts Eye and Ear, Boston, Massachusetts, USA., de Oliveira Poswar F; Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; Post Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil., Schwartz IVD; Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; Post Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil., Silva Alves T; Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Dusser P; Service de Rhumatologie Pédiatrique, Centre de Référence des Maladies Auto-Inflammatoires de l'enfant, Hôpital Bicêtre, AP HP, Université Paris Sud, Bicetre, France., Koné-Paut I; Service de Rhumatologie Pédiatrique, Centre de Référence des Maladies Auto-Inflammatoires et de l'amylose inflammatoire CEREMAIA, Hôpital Bicêtre, AP HP, Université Paris Saclay, Bicetre, France., Touitou I; CeRéMAIA, CHU Montpellier, INSERM, University of Montpellier, Montpellier, France., Titah SM; Hôpital Fondation Adolphe de Rothschild, Paris, France., van Hagen PM; Depts Internal Medicine and Immunology, Erasmus MC, Rotterdam, The Netherlands., van Wijck RTA; Pathology & Clinical Bioinformatics, Erasmus MC, Rotterdam, The Netherlands., van der Spek PJ; Pathology & Clinical Bioinformatics, Erasmus MC, Rotterdam, The Netherlands., Yano H; Iizuka Hospital, Iizuka, Japan., Benneche A; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Apalset EM; Bergen Group of Epidemiology and Biomarkers in Rheumatic Disease, Department of Rheumatology, Haukeland University Hospital, Bergen, Norway., Jansson RW; Department of Ophthalmology, Haukeland University Hospital, Bergen, Norway., Caspi RR; Laboratory of Immunology, National Eye Institute, NIH, Bethesda, Maryland, USA., Kuhns DB; Neutrophil Monitoring Laboratory, Applied/Developmental Research Directorate, Frederick National Laboratory for Cancer Research, Frederick, Maryland, USA., Gadina M; National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, Maryland, USA., Takada H; Department of Child Health, University of Tsukuba Faculty of Medicine, Tsukuba, Japan., Ida H; Division of Respirology, Neurology, and Rheumatology, Department of Medicine, Kurume University School of Medicine, Kurume, Japan., Nishikomori R; Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Japan., Verrecchia E; Department of Internal Medicine, Periodic Fevers Research Center, Università Cattolica del Sacro Cuore, Roma, Italy.; Dipartimento di scienze dell'invecchiamento, neurologiche, ortopediche e della testa-collo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Italy., Sangiorgi E; Istitute of Genomic di Medicine, Universita Cattolica del Sacro Cuore, Roma, Italy., Manna R; Department of Internal Medicine, Periodic Fevers Research Center, Università Cattolica del Sacro Cuore, Roma, Italy., Brooks BP; Ophthalmic Genetics & Visual Function Branch, National Eye Institute, Bethesda, Maryland, USA., Sobrin L; Massachusetts Eye and Ear, Boston, Massachusetts, USA., Hufnagel RB; Ophthalmic Genetics & Visual Function Branch, National Eye Institute, Bethesda, Maryland, USA., Beck D; NYU, New York, New York, USA., Shao F; National Institute of Biological Sciences Beijing, Beijing, China., Ombrello AK; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, Maryland, USA., Aksentijevich I; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, Maryland, USA., Kastner DL; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, Maryland, USA christina.kozycki@nih.gov dan.kastner@nih.gov.

Publikováno v: Annals of the rheumatic diseases [Ann Rheum Dis] 2022 Oct; Vol. 81 (10), pp. 1453-1464. Date of Electronic Publication: 2022 Jul 22.

Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency.

Autor: Suratannon N; Department of Immunology, Laboratory Medical Immunology, Erasmus MC, University Medical Center, Rotterdam, Netherlands.; Pediatric Allergy & Clinical Immunology Research Unit, Division of Allergy and Immunology, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok, Thailand., van Wijck RTA; Department Internal Medicine, Division of Clinical Immunology, Erasmus MC, University Medical Center, Rotterdam, Netherlands., Broer L; Genetic Laboratory and Human Genomics Facility HuGeF, Department of Internal Medicine, Erasmus MC, University Medical Center, Rotterdam, Netherlands., Xue L; Department Internal Medicine, Division of Clinical Immunology, Erasmus MC, University Medical Center, Rotterdam, Netherlands., van Meurs JBJ; Genetic Laboratory and Human Genomics Facility HuGeF, Department of Internal Medicine, Erasmus MC, University Medical Center, Rotterdam, Netherlands., Barendregt BH; Department of Immunology, Laboratory Medical Immunology, Erasmus MC, University Medical Center, Rotterdam, Netherlands.; Academic Center for Rare Immunological Diseases (Rare Immunological Disease Center, RIDC), Erasmus MC, University Medical Center, Rotterdam, Netherlands., van der Burg M; Laboratory for Immunology, Department of Pediatrics, Leiden University Medical Centre, Leiden, Netherlands., Dik WA; Department of Immunology, Laboratory Medical Immunology, Erasmus MC, University Medical Center, Rotterdam, Netherlands.; Department Internal Medicine, Division of Clinical Immunology, Erasmus MC, University Medical Center, Rotterdam, Netherlands.; Academic Center for Rare Immunological Diseases (Rare Immunological Disease Center, RIDC), Erasmus MC, University Medical Center, Rotterdam, Netherlands., Chatchatee P; Pediatric Allergy & Clinical Immunology Research Unit, Division of Allergy and Immunology, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok, Thailand., Langerak AW; Department of Immunology, Laboratory Medical Immunology, Erasmus MC, University Medical Center, Rotterdam, Netherlands.; Academic Center for Rare Immunological Diseases (Rare Immunological Disease Center, RIDC), Erasmus MC, University Medical Center, Rotterdam, Netherlands., Swagemakers SMA; Academic Center for Rare Immunological Diseases (Rare Immunological Disease Center, RIDC), Erasmus MC, University Medical Center, Rotterdam, Netherlands.; Department of Pathology & Clinical Bioinformatics, Erasmus MC, University Medical Center, Rotterdam, Netherlands., Goos JAC; Department of Plastic and Reconstructive Surgery, Erasmus MC, University Medical Center, Rotterdam, Netherlands., Mathijssen IMJ; Department of Plastic and Reconstructive Surgery, Erasmus MC, University Medical Center, Rotterdam, Netherlands., Dalm VASH; Department of Immunology, Laboratory Medical Immunology, Erasmus MC, University Medical Center, Rotterdam, Netherlands.; Department Internal Medicine, Division of Clinical Immunology, Erasmus MC, University Medical Center, Rotterdam, Netherlands.; Academic Center for Rare Immunological Diseases (Rare Immunological Disease Center, RIDC), Erasmus MC, University Medical Center, Rotterdam, Netherlands., Suphapeetiporn K; Center of Excellence for Medical Genomics, Division of Medical Genetics and Metabolism, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok, Thailand., Heezen KC; Department of Immunology, Laboratory Medical Immunology, Erasmus MC, University Medical Center, Rotterdam, Netherlands., Drabwell J; International Patient Organization for Primary Immunodeficiencies (IPOPI), Downderry, United Kingdom., Uitterlinden AG; Genetic Laboratory and Human Genomics Facility HuGeF, Department of Internal Medicine, Erasmus MC, University Medical Center, Rotterdam, Netherlands., van der Spek PJ; Pediatric Allergy & Clinical Immunology Research Unit, Division of Allergy and Immunology, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok, Thailand.; Academic Center for Rare Immunological Diseases (Rare Immunological Disease Center, RIDC), Erasmus MC, University Medical Center, Rotterdam, Netherlands.; Laboratory for Immunology, Department of Pediatrics, Leiden University Medical Centre, Leiden, Netherlands., van Hagen PM; Department of Immunology, Laboratory Medical Immunology, Erasmus MC, University Medical Center, Rotterdam, Netherlands.; Pediatric Allergy & Clinical Immunology Research Unit, Division of Allergy and Immunology, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok, Thailand.; Department Internal Medicine, Division of Clinical Immunology, Erasmus MC, University Medical Center, Rotterdam, Netherlands.; Academic Center for Rare Immunological Diseases (Rare Immunological Disease Center, RIDC), Erasmus MC, University Medical Center, Rotterdam, Netherlands.

Publikováno v: Frontiers in immunology [Front Immunol] 2020 Apr 15; Vol. 11, pp. 614. Date of Electronic Publication: 2020 Apr 15 (Print Publication: 2020).

The complement system in glioblastoma multiforme.

Autor: Bouwens van der Vlis TAM; Department of Bioinformatics, Erasmus University Medical Center, Wytemaweg 80, 3015, GE, Rotterdam, The Netherlands.; Department of Neurosurgery, Maastricht University Medical Center, P. Debyelaan 25, 6229, HX, Maastricht, The Netherlands.; Department of Pathology, Erasmus University Medical Center, Wytemaweg 80, 3015, GE, Rotterdam, The Netherlands., Kros JM; Department of Pathology, Erasmus University Medical Center, Wytemaweg 80, 3015, GE, Rotterdam, The Netherlands. j.m.kros@erasmusmc.nl., Mustafa DAM; Department of Pathology, Erasmus University Medical Center, Wytemaweg 80, 3015, GE, Rotterdam, The Netherlands., van Wijck RTA; Department of Internal Medicine, Erasmus University Medical Center, Wytemaweg 80, 3015, GE, Rotterdam, The Netherlands., Ackermans L; Department of Neurosurgery, Maastricht University Medical Center, P. Debyelaan 25, 6229, HX, Maastricht, The Netherlands., van Hagen PM; Department of Internal Medicine, Erasmus University Medical Center, Wytemaweg 80, 3015, GE, Rotterdam, The Netherlands.; Department of Immunology, Erasmus University Medical Center, Wytemaweg 80, 3015, GE, Rotterdam, The Netherlands., van der Spek PJ; Department of Bioinformatics, Erasmus University Medical Center, Wytemaweg 80, 3015, GE, Rotterdam, The Netherlands.; Department of Pathology, Erasmus University Medical Center, Wytemaweg 80, 3015, GE, Rotterdam, The Netherlands.

Publikováno v: Acta neuropathologica communications [Acta Neuropathol Commun] 2018 Sep 12; Vol. 6 (1), pp. 91. Date of Electronic Publication: 2018 Sep 12.