"Deficiency in ELF4, X-Linked": a Monogenic Disease Entity Resembling Behçet's Syndrome and Inflammatory Bowel Disease.

Autor: Olyha SJ; Department of Immunobiology, Yale University School of Medicine, New Haven, CT, USA., O'Connor SK; Department of Pediatrics, Yale University School of Medicine, New Haven, CT, USA.; Division of Rheumatology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Kribis M; Section of Rheumatology, Department of Internal Medicine, Yale School of Medicine, New Haven, CT, USA., Bucklin ML; Department of Immunobiology, Yale University School of Medicine, New Haven, CT, USA., Uthaya Kumar DB; Department of Immunobiology, Yale University School of Medicine, New Haven, CT, USA., Tyler PM; Department of Immunobiology, Yale University School of Medicine, New Haven, CT, USA., Alam F; Department of Immunobiology, Yale University School of Medicine, New Haven, CT, USA., Jones KM; Department of Immunobiology, Yale University School of Medicine, New Haven, CT, USA., Sheikha H; Department of Immunobiology, Yale University School of Medicine, New Haven, CT, USA.; Department of Pediatrics, Yale University School of Medicine, New Haven, CT, USA., Konnikova L; 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., Lakhani SA; 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., Montgomery RR; Section of Rheumatology, Department of Internal Medicine, Yale School of Medicine, New Haven, CT, USA., Catanzaro J; Division of Pediatric Allergy and Clinical Immunology, National Jewish Health, Denver, CO, USA., Du H; 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., DiGiacomo DV; Division of Rheumatology, Allergy and Immunology, Massachusetts General Hospital, Boston, MA, USA., Rothermel H; Division of Pediatric Rheumatology, MassGeneral for Children, Boston, MA, USA., Moran CJ; Division of Pediatric Gastroenterology, MassGeneral for Children, Boston, MA, USA., Fiedler K; 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., Warner N; Cell Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada., Hoppenreijs EPAH; Department of Pediatric Rheumatology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands., van der Made CI; Department of Internal Medicine and Radboud Center for Infectious Diseases, Radboud University Medical Center, Nijmegen, The Netherlands., Hoischen A; Department of Internal Medicine and Radboud Center for Infectious Diseases, Radboud University Medical Center, Nijmegen, The Netherlands., Olbrich P; 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., Neth O; 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., Rodríguez-Martínez A; Pediatric Gastroenterology, Hepatology and Nutrition Unit, Hospital Universitario Virgen del Rocío, Seville, Spain., Lucena Soto JM; Unidad de Inmunología, Hospital Universitario Virgen del Rocío, Sevilla, Spain., van Rossum AMC; 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., Dalm VASH; 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., Muise AM; 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., Lucas CL; 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.
Jazyk: angličtina
Zdroj: Journal of clinical immunology [J Clin Immunol] 2024 Jan 17; Vol. 44 (2), pp. 44. Date of Electronic Publication: 2024 Jan 17.
DOI: 10.1007/s10875-023-01610-8
Abstrakt: Defining monogenic drivers of autoinflammatory syndromes elucidates mechanisms of disease in patients with these inborn errors of immunity and can facilitate targeted therapeutic interventions. Here, we describe a cohort of patients with a Behçet's- and inflammatory bowel disease (IBD)-like disorder termed "deficiency in ELF4, X-linked" (DEX) affecting males with loss-of-function variants in the ELF4 transcription factor gene located on the X chromosome. An international cohort of fourteen DEX patients was assessed to identify unifying clinical manifestations and diagnostic criteria as well as collate findings informing therapeutic responses. DEX patients exhibit a heterogeneous clinical phenotype including weight loss, oral and gastrointestinal aphthous ulcers, fevers, skin inflammation, gastrointestinal symptoms, arthritis, arthralgia, and myalgia, with findings of increased inflammatory markers, anemia, neutrophilic leukocytosis, thrombocytosis, intermittently low natural killer and class-switched memory B cells, and increased inflammatory cytokines in the serum. Patients have been predominantly treated with anti-inflammatory agents, with the majority of DEX patients treated with biologics targeting TNFα.
(© 2024. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)
Databáze: MEDLINE
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