المؤلفون: Williamson KA; Division of Rheumatology, Mayo Clinic, Rochester, MN, USA., Yun M; Division of Rheumatology, Allergy and Immunology, Stony Brook University Renaissance School of Medicine, Stony Brook, NY, USA., Koster MJ; Division of Rheumatology, Mayo Clinic, Rochester, MN, USA., Arment C; Division of Rheumatology, Mayo Clinic, Rochester, MN, USA., Patnaik A; Division of Rheumatology, Allergy and Immunology, Stony Brook University Renaissance School of Medicine, Stony Brook, NY, USA., Chang TW; Pathology, Boston Scientific, Alpharetta, GA, USA., Bledsoe AC; Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, MN, USA., Sae-Tia S; Division of Infectious Disease, Stony Brook University Renaissance School of Medicine, Stony Brook, NY, USA., Shah AS; Division of Public Health, Infectious Diseases and Occupational Medicine, Mayo Clinic, Rochester, MN, USA., Samuels J; Division of Rheumatology, NYU Langone Health, New York, NY, USA., Davis JM 3rd; Division of Rheumatology, Mayo Clinic, Rochester, MN, USA., Yao Q; Division of Rheumatology, Allergy and Immunology, Stony Brook University Renaissance School of Medicine, Stony Brook, NY, USA.

المصدر: Rheumatology (Oxford, England) [Rheumatology (Oxford)] 2024 May 02; Vol. 63 (5), pp. 1291-1296.

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

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 100883501 Publication Model: Print Cited Medium: Internet ISSN: 1462-0332 (Electronic) Linking ISSN: 14620324 NLM ISO Abbreviation: Rheumatology (Oxford) Subsets: MEDLINE

مواضيع طبية MeSH: Whipple Disease*/genetics , Whipple Disease*/immunology , Nod2 Signaling Adaptor Protein*/genetics , Mutation*, Humans ; Male ; Retrospective Studies ; Middle Aged ; Adult ; Genetic Predisposition to Disease ; Tropheryma/genetics

المؤلفون: Mark Yun, Zuoming Deng, Brianne Navetta-Modrov, Baozhong Xin, Jie Yang, Hafsa Nomani, Olga Aroniadis, Peter D. Gorevic, Qingping Yao

المصدر: Frontiers in Immunology, Vol 14 (2024)

مصطلحات موضوعية: autoinflammatory disease, Cryopyrin-associated periodic syndrome, digenic, genetically transitional disease, mutation, NLRP3, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2023.1321370/full; https://doaj.org/toc/1664-3224

URL الوصول: https://doaj.org/article/3b37f0562fa14d03a02ac1612bfb9dbc

المؤلفون: Mingyu Xie, Jingjing Wan, Xin Zheng, Xian Zou, Wanting Chen, Kanglin Zhang, Huiting Yuan, Zhenhong Zhang, Haisheng Zeng

المصدر: Frontiers in Immunology, Vol 14 (2023)

مصطلحات موضوعية: autoinflammatory disease, NLRP3-AID, NLRP3, mutation, newborn, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2023.1238551/full; https://doaj.org/toc/1664-3224

URL الوصول: https://doaj.org/article/5eac9bc326f74555bb29d6225f46804a

المؤلفون: Patrick AE; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, United States., Lyons EM; Vanderbilt University School of Medicine, Nashville, TN, United States., Ishii L; Department of Dermatology, Vanderbilt University Medical Center, Nashville, TN, United States., Boyd AS; Department of Dermatology, Vanderbilt University Medical Center, Nashville, TN, United States., Choi JM; Department of Pathology, Microbiology, and Immunology, Vanderbilt University Medical Center, Nashville, TN, United States., Dewan AK; Department of Dermatology, Vanderbilt University Medical Center, Nashville, TN, United States., Markle JG; Department of Pathology, Microbiology, and Immunology, Vanderbilt University Medical Center, Nashville, TN, United States.

المصدر: Frontiers in immunology [Front Immunol] 2021 Nov 18; Vol. 12, pp. 775140. Date of Electronic Publication: 2021 Nov 18 (Print Publication: 2021).

نوع المنشور: Case Reports; Research Support, N.I.H., Extramural; 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: Mutation* , Phenotype*, Cryopyrin-Associated Periodic Syndromes/*diagnosis , Cryopyrin-Associated Periodic Syndromes/*genetics , NLR Family, Pyrin Domain-Containing 3 Protein/*genetics , Urticaria/*diagnosis , Urticaria/*genetics, Biomarkers ; Biopsy ; Child, Preschool ; DNA Mutational Analysis ; Female ; Genetic Association Studies ; Genetic Predisposition to Disease ; Humans ; Immunohistochemistry ; Skin/pathology

المؤلفون: Lin B; Laboratory of Clinical Immunology and Microbiology, Translational Autoinflammatory Diseases Section (TADS), National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States., Torreggiani S; Laboratory of Clinical Immunology and Microbiology, Translational Autoinflammatory Diseases Section (TADS), National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States., Kahle D; Laboratory of Clinical Immunology and Microbiology, Translational Autoinflammatory Diseases Section (TADS), National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States., Rumsey DG; Department of Pediatrics, University of Alberta, Edmonton, AB, Canada., Wright BL; Section of Allergy and Immunology, Division of Pulmonology, Phoenix Children's Hospital, Phoenix, AZ, United States.; Division of Allergy, Asthma, and Clinical Immunology, Department of Medicine, Mayo Clinic, Scottsdale, AZ, United States., Montes-Cano MA; Immunology Service, Hospital Universitario Virgen del Rocío, Seville, Spain., Silveira LF; Pediatric Immunodeficiency, Rheumatology and Infectious Diseases Unit, Hospital Universitario Virgen del Rocío, Seville, Spain., Alehashemi S; Laboratory of Clinical Immunology and Microbiology, Translational Autoinflammatory Diseases Section (TADS), National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States., Mitchell J; Laboratory of Clinical Immunology and Microbiology, Translational Autoinflammatory Diseases Section (TADS), National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States., Aue AG; Laboratory of Clinical Immunology and Microbiology, Translational Autoinflammatory Diseases Section (TADS), National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States., Ji Z; Laboratory of Structural Immunology, CAS Key Laboratory of Innate Immunity and Chronic Disease, CAS Center for Excellence in Molecular Cell Science, School of Life Sciences and Medical Center, University of Science and Technology of China, Hefei, China., Jin T; Laboratory of Structural Immunology, CAS Key Laboratory of Innate Immunity and Chronic Disease, CAS Center for Excellence in Molecular Cell Science, School of Life Sciences and Medical Center, University of Science and Technology of China, Hefei, China., de Jesus AA; Laboratory of Clinical Immunology and Microbiology, Translational Autoinflammatory Diseases Section (TADS), National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States., Goldbach-Mansky R; Laboratory of Clinical Immunology and Microbiology, Translational Autoinflammatory Diseases Section (TADS), National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States.

المصدر: Frontiers in immunology [Front Immunol] 2021 Mar 22; Vol. 12, pp. 636225. Date of Electronic Publication: 2021 Mar 22 (Print Publication: 2021).

نوع المنشور: Case Reports; Research Support, N.I.H., Intramural

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: Mutation*, Inflammation/*genetics , Lung Diseases, Interstitial/*genetics , Membrane Proteins/*genetics , Peripheral Vascular Diseases/*genetics, Adult ; Child ; DNA Mutational Analysis ; Female ; Genetic Predisposition to Disease ; HEK293 Cells ; Humans ; Inflammation/diagnosis ; Inflammation/metabolism ; Inflammation/therapy ; Lung Diseases, Interstitial/diagnosis ; Lung Diseases, Interstitial/metabolism ; Lung Diseases, Interstitial/therapy ; Male ; Membrane Proteins/metabolism ; Middle Aged ; Models, Molecular ; Peripheral Vascular Diseases/diagnosis ; Peripheral Vascular Diseases/metabolism ; Peripheral Vascular Diseases/therapy ; Phenotype ; Protein Conformation ; Protein Multimerization ; Severity of Illness Index ; Structure-Activity Relationship ; Exome Sequencing ; Young Adult

المؤلفون: Watad A; National Institute for Health Research-Leeds Biomedical Research Centre and Leeds Institute of Rheumatic and Musculoskeletal Medicine (LIRMM), Wellcome Trust Brenner Building, St James's University Hospital, Leeds, United Kingdom.; Department of Medicine B and Zabludowicz Center for Autoimmune Diseases, Sheba Medical Center, Tel-Hashomer, Ramat-Gan, Israel, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel., Kacar M; National Institute for Health Research-Leeds Biomedical Research Centre and Leeds Institute of Rheumatic and Musculoskeletal Medicine (LIRMM), Wellcome Trust Brenner Building, St James's University Hospital, Leeds, United Kingdom.; Department of Clinical Immunology and Allergy, St James's University Hospital, Leeds, United Kingdom., Bragazzi NL; Laboratory for Industrial and Applied Mathematics (LIAM), Department of Mathematics and Statistics, York University, Toronto, ON, Canada., Zhou Q; National Institute for Health Research-Leeds Biomedical Research Centre and Leeds Institute of Rheumatic and Musculoskeletal Medicine (LIRMM), Wellcome Trust Brenner Building, St James's University Hospital, Leeds, United Kingdom.; Department of Rheumatology & Immunology, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Chengdu, China., Jassam M; Department of Clinical Immunology and Allergy, St James's University Hospital, Leeds, United Kingdom., Taylor J; Department of Haematology, St James's University Hospital, Leeds, United Kingdom., Roman E; Epidemiology & Cancer Statistics Group, Department of Health Sciences, University of York, York, United Kingdom., Smith A; Epidemiology & Cancer Statistics Group, Department of Health Sciences, University of York, York, United Kingdom., Jones RA; HMDS Department, Leeds Teaching Hospitals, Leeds, United Kingdom., Amital H; Department of Medicine B and Zabludowicz Center for Autoimmune Diseases, Sheba Medical Center, Tel-Hashomer, Ramat-Gan, Israel, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel., Cargo C; HMDS Department, Leeds Teaching Hospitals, Leeds, United Kingdom., McGonagle D; National Institute for Health Research-Leeds Biomedical Research Centre and Leeds Institute of Rheumatic and Musculoskeletal Medicine (LIRMM), Wellcome Trust Brenner Building, St James's University Hospital, Leeds, United Kingdom., Savic S; National Institute for Health Research-Leeds Biomedical Research Centre and Leeds Institute of Rheumatic and Musculoskeletal Medicine (LIRMM), Wellcome Trust Brenner Building, St James's University Hospital, Leeds, United Kingdom.; Department of Clinical Immunology and Allergy, St James's University Hospital, Leeds, United Kingdom.

المصدر: Frontiers in immunology [Front Immunol] 2021 Feb 19; Vol. 12, pp. 610019. Date of Electronic Publication: 2021 Feb 19 (Print Publication: 2021).

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: Genetic Predisposition to Disease* , Mutation*, Hereditary Autoinflammatory Diseases/*diagnosis , Hereditary Autoinflammatory Diseases/*etiology , Myelodysplastic Syndromes/*complications , Myelodysplastic Syndromes/*genetics, Adolescent ; Adult ; Aged ; Aged, 80 and over ; Alleles ; Autoantibodies/immunology ; Autoimmunity/genetics ; Child ; Chromosome Aberrations ; Female ; Genetic Association Studies ; Humans ; Karyotype ; Male ; Middle Aged ; Prognosis ; Risk Assessment ; Risk Factors ; Young Adult

المؤلفون: Kosukcu C; Department of Bioinformatics, Institute of Health Sciences, Ankara, Turkey., Taskiran EZ; Faculty of Medicine, Department of Medical Genetics, Ankara, Turkey., Batu ED; Department of Pediatric Rheumatology, Hacettepe University, Ankara, Turkey., Sag E; Department of Pediatric Rheumatology, Hacettepe University, Ankara, Turkey., Bilginer Y; Department of Pediatric Rheumatology, Hacettepe University, Ankara, Turkey., Alikasifoglu M; Faculty of Medicine, Department of Medical Genetics, Ankara, Turkey., Ozen S; Department of Pediatric Rheumatology, Hacettepe University, Ankara, Turkey.

المصدر: Rheumatology (Oxford, England) [Rheumatology (Oxford)] 2021 Feb 01; Vol. 60 (2), pp. 607-616.

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

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 100883501 Publication Model: Print Cited Medium: Internet ISSN: 1462-0332 (Electronic) Linking ISSN: 14620324 NLM ISO Abbreviation: Rheumatology (Oxford) Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Hereditary Autoinflammatory Diseases/*genetics , Pyrin/*genetics , Exome Sequencing/*methods, Adolescent ; Child ; Child, Preschool ; Female ; Genetic Association Studies ; Hereditary Autoinflammatory Diseases/metabolism ; Humans ; Infant ; Male ; Phenotype ; Pyrin/metabolism ; Sequence Analysis, DNA

المؤلفون: Balta B; Department of Medical Genetics, Kayseri Training and Research Hospital, Kayseri, Turkey. burhan0629@gmail.com., Erdogan M; Department of Medical Genetics, Kayseri Training and Research Hospital, Kayseri, Turkey., Kiraz A; Department of Medical Genetics, Kayseri Training and Research Hospital, Kayseri, Turkey., Akalın T; Department of Rheumatology, Kayseri Training and Research Hospital, Kayseri, Turkey., Baştug F; Department of Pediatric Nephrology, Kayseri Training and Research Hospital, Kayseri, Turkey., Bayram A; Department of Medical Genetics, Haseki Training and Research Hospital, İstanbul, Turkey.

المصدر: Molecular biology reports [Mol Biol Rep] 2020 Mar; Vol. 47 (3), pp. 1835-1843. Date of Electronic Publication: 2020 Jan 27.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Reidel Country of Publication: Netherlands NLM ID: 0403234 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-4978 (Electronic) Linking ISSN: 03014851 NLM ISO Abbreviation: Mol Biol Rep Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Familial Mediterranean Fever/*genetics , High-Throughput Nucleotide Sequencing/*methods , Pyrin/*genetics, Adolescent ; Adult ; Exons ; Female ; Gene Frequency ; Genetic Association Studies ; Humans ; Male ; Sequence Analysis, DNA/methods ; Young Adult

المؤلفون: Negm OH; School of Medicine, Queen's Medical Centre, University of Nottingham, Nottingham, UK.; Medical Microbiology and Immunology Department, Faculty of Medicine, Mansoura University, Mansoura, Egypt., Singh S; Immunology, School of Life Sciences, University of Nottingham, Nottingham, UK., Abduljabbar W; Immunology, School of Life Sciences, University of Nottingham, Nottingham, UK., Hamed MR; School of Medicine, Queen's Medical Centre, University of Nottingham, Nottingham, UK.; Medical Microbiology and Immunology Department, Faculty of Medicine, Mansoura University, Mansoura, Egypt., Radford P; Immunology, School of Life Sciences, University of Nottingham, Nottingham, UK., McDermott EM; Nottingham University Hospitals National Health Service Trust, Queen's Medical Centre Campus, Nottingham, UK., Drewe E; Nottingham University Hospitals National Health Service Trust, Queen's Medical Centre Campus, Nottingham, UK., Fairclough L; Immunology, School of Life Sciences, University of Nottingham, Nottingham, UK., Todd I; Immunology, School of Life Sciences, University of Nottingham, Nottingham, UK., Tighe PJ; Immunology, School of Life Sciences, University of Nottingham, Nottingham, UK.

المصدر: Clinical and experimental immunology [Clin Exp Immunol] 2019 Sep; Vol. 197 (3), pp. 352-360. Date of Electronic Publication: 2019 May 22.

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

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0057202 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2249 (Electronic) Linking ISSN: 00099104 NLM ISO Abbreviation: Clin Exp Immunol Subsets: MEDLINE

مواضيع طبية MeSH: Genes, Dominant* , Mutation*, Autoimmune Diseases/*immunology , Genetic Diseases, Inborn/*immunology , Receptors, Tumor Necrosis Factor, Type I/*genetics , Toll-Like Receptor 9/*immunology, Adult ; Aged ; Autoimmune Diseases/genetics ; Autoimmune Diseases/pathology ; Cytokines/genetics ; Cytokines/immunology ; Female ; Gene Expression Regulation/drug effects ; Gene Expression Regulation/immunology ; Genetic Diseases, Inborn/genetics ; Genetic Diseases, Inborn/pathology ; Humans ; Inflammation/chemically induced ; Inflammation/genetics ; Inflammation/immunology ; Inflammation/pathology ; Male ; Middle Aged ; Oligodeoxyribonucleotides/pharmacology ; Receptors, Tumor Necrosis Factor, Type I/immunology ; Signal Transduction/drug effects ; Signal Transduction/genetics ; Signal Transduction/immunology ; Syndrome ; Toll-Like Receptor 9/agonists ; Toll-Like Receptor 9/genetics

المؤلفون: Li H; Division of Rheumatology, First Affiliated Hospital, Inner Mongolia Medical University, Hohhot, People's Republic of China., Abramova I; Division of Rheumatology, Allergy and Immunology, Stony Brook University, Stony Brook, NY, 11794, USA., Chesoni S; Department of Medicine, Stony Brook University, Stony Brook, NY, USA., Yao Q; Division of Rheumatology, Allergy and Immunology, Stony Brook University, Stony Brook, NY, 11794, USA. qingping.yao@stonybrookmedicine.edu.

المصدر: Clinical rheumatology [Clin Rheumatol] 2018 Aug; Vol. 37 (8), pp. 2021-2026. Date of Electronic Publication: 2018 Jun 17.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Springer Country of Publication: Germany NLM ID: 8211469 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1434-9949 (Electronic) Linking ISSN: 07703198 NLM ISO Abbreviation: Clin Rheumatol Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Predisposition to Disease* , Mutation*, Arthritis, Juvenile/*genetics , Hereditary Autoinflammatory Diseases/*genetics , Still's Disease, Adult-Onset/*genetics, Arthritis, Juvenile/diagnosis ; Humans ; Nod2 Signaling Adaptor Protein/genetics ; Phosphotransferases (Alcohol Group Acceptor)/genetics ; Pyrin/genetics ; Receptors, Tumor Necrosis Factor, Type I/genetics ; Still's Disease, Adult-Onset/diagnosis