"Deficiency in ELF4, X-Linked": a Monogenic Disease Entity Resembling Behçet's Syndrome and Inflammatory Bowel Disease.
作者:
Sam J,Olyha [1]
;
Shannon K,O'Connor [2]
;
Marat,Kribis [3]
;
Molly L,Bucklin [1]
;
Dinesh Babu,Uthaya Kumar [1]
;
Paul M,Tyler [1]
;
Faiad,Alam [1]
;
Kate M,Jones [1]
;
Hassan,Sheikha [4]
;
Liza,Konnikova [5]
;
Saquib A,Lakhani [6]
;
Ruth R,Montgomery [3]
;
Jason,Catanzaro [7]
;
Hongqiang,Du [8]
;
Daniel V,DiGiacomo [9]
;
Holly,Rothermel [10]
;
Christopher J,Moran [11]
;
Karoline,Fiedler [12]
;
Neil,Warner [13]
;
Esther P A H,Hoppenreijs [14]
;
Caspar I,van der Made [15]
;
Alexander,Hoischen [15]
;
Peter,Olbrich [16]
;
Olaf,Neth [17]
;
Alejandro,Rodríguez-Martínez [18]
;
José Manuel,Lucena Soto [19]
;
Annemarie M C,van Rossum [20]
;
Virgil A S H,Dalm [21]
;
Aleixo M,Muise [22]
;
Carrie L,Lucas [23]
作者单位:
Department of Immunobiology, Yale University School of Medicine, New Haven, CT, USA.
[1]
Department of Pediatrics, Yale University School of Medicine, New Haven, CT, USA.;Division of Rheumatology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
[2]
Section of Rheumatology, Department of Internal Medicine, Yale School of Medicine, New Haven, CT, USA.
[3]
Department of Immunobiology, Yale University School of Medicine, New Haven, CT, USA.;Department of Pediatrics, Yale University School of Medicine, New Haven, CT, USA.
[4]
Department of Pediatrics, Yale University School of Medicine, New Haven, CT, USA.;Division of Neonatal and Perinatal Medicine, Yale University School of Medicine, New Haven, CT, USA.;Department of Obstetrics, Gynecology and Reproductive Sciences, Yale Medical School, New Haven, CT, USA.;Program in Human and Translational Immunology, Yale University School of Medicine, New Haven, CT, USA.
[5]
Department of Pediatrics, Yale University School of Medicine, New Haven, CT, USA.;Pediatric Genomics Discovery Program, Yale University School of Medicine, New Haven, CT, USA.
[6]
Division of Pediatric Allergy and Clinical Immunology, National Jewish Health, Denver, CO, USA.
[7]
National Clinical Research Center for Child Health and Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.;Ministry of Education Key Laboratory of Child Development and Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.;Chongqing Key Laboratory of Child Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, China.;Department of Rheumatology & Immunology, Children's Hospital of Chongqing Medical University, Chongqing, China.
[8]
Division of Rheumatology, Allergy and Immunology, Massachusetts General Hospital, Boston, MA, USA.
[9]
Division of Pediatric Rheumatology, MassGeneral for Children, Boston, MA, USA.
[10]
Division of Pediatric Gastroenterology, MassGeneral for Children, Boston, MA, USA.
[11]
SickKids Inflammatory Bowel Disease Centre, The Hospital for Sick Children, Toronto, ON, Canada.;Cell Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada.
[12]
Cell Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada.
[13]
Department of Pediatric Rheumatology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.
[14]
Department of Internal Medicine and Radboud Center for Infectious Diseases, Radboud University Medical Center, Nijmegen, The Netherlands.
[15]
Inborn Errors of Immunity Group, Biomedicine Institute of Sevilla (IBiS), CSIC, Seville, Spain.;Pediatric Infectious Diseases, Rheumatology and Immunology Unit, Hospital Universitario Virgen del Rocío, Seville, Spain.;Departamento de Farmacología, Pediatría y Radiología, Universidad de Sevilla, Seville, Spain.
[16]
Inborn Errors of Immunity Group, Biomedicine Institute of Sevilla (IBiS), CSIC, Seville, Spain.;Pediatric Infectious Diseases, Rheumatology and Immunology Unit, Hospital Universitario Virgen del Rocío, Seville, Spain.
[17]
Pediatric Gastroenterology, Hepatology and Nutrition Unit, Hospital Universitario Virgen del Rocío, Seville, Spain.
[18]
Unidad de Inmunología, Hospital Universitario Virgen del Rocío, Sevilla, Spain.
[19]
Erasmus MC University Medical Center-Sophia Children's Hospital, Department of Pediatrics, Division of Infectious Diseases and Immunology, Rotterdam, The Netherlands.;Department of Medical Microbiology and Infectious Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
[20]
Department of Immunology, Laboratory of Medical Immunology, Erasmus University Medical Centre, Rotterdam, The Netherlands.;Department of Internal Medicine, Division of Allergy & Clinical Immunology, Erasmus University Medical Center, Rotterdam, The Netherlands.;Academic Center for Rare Immunological Diseases (RIDC), Erasmus University Medical Center, Rotterdam, The Netherlands.
[21]
SickKids Inflammatory Bowel Disease Centre, The Hospital for Sick Children, Toronto, ON, Canada.;Cell Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada.;Department of Pediatrics, Institute of Medical Science and Biochemistry, University of Toronto, The Hospital for Sick Children, Toronto, ON, Canada.
[22]
Department of Immunobiology, Yale University School of Medicine, New Haven, CT, USA. Carrie.Lucas@yale.edu.;Program in Human and Translational Immunology, Yale University School of Medicine, New Haven, CT, USA. Carrie.Lucas@yale.edu.
[23]
主题词
男(雄)性(Male);人类(Humans);贝赫切特综合征(Behcet Syndrome);炎性肠疾病(Inflammatory Bowel Diseases);关节痛(Arthralgia);关节炎(Arthritis);生物制品(Biological Products);DNA结合蛋白质类(DNA-Binding Proteins);转录因子(Transcription Factors)
DOI
10.1007/s10875-023-01610-8
PMID
38231408
发布时间
2025-01-18
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Journal of clinical immunology
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