Autosomal-dominant Roquin-1 immunodeficiency and hyperinflammation.

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Bibliographic Details
Title: Autosomal-dominant Roquin-1 immunodeficiency and hyperinflammation.
Authors: Nahum A; Department of Pediatrics, Kaplan Medical Center, Faculty of Medicine, Hebrew University of Jerusalem, Rehovot, Israel., Sharfe N; Canadian Centre for Primary Immunodeficiency and the Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, The Hospital for Sick Children, Toronto, Ontario, Canada; Division of Immunology and Allergy, Department of Paediatrics, The Hospital for Sick Children and the University of Toronto, Toronto, Ontario, Canada., Merico D; Centre for Applied Genomics (TCAG), Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada; Tahoe Therapeutics (formerly Vevo), South San Francisco, Calif., Williams KW; Division of Pediatric Pulmonology, Allergy and Immunology, Department of Pediatrics, Medical University of South Carolina, Charleston, SC., Aleman D; Department of Mechanical & Industrial Engineering, University of Toronto, Toronto, Ontario, Canada., Marshall CR; Centre for Applied Genomics (TCAG), Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada; Division of Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, and the Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada., Al Shaqaq A; Division of Immunology and Allergy, Department of Paediatrics, The Hospital for Sick Children and the University of Toronto, Toronto, Ontario, Canada; Department of Pediatrics, King Faisal General Hospital, Al-Ahsa, Saudi Arabia., Al Ghamdi A; Division of Immunology and Allergy, Department of Paediatrics, The Hospital for Sick Children and the University of Toronto, Toronto, Ontario, Canada; Department of Pediatrics, King Faisal Specialist Hospital and Research Center Ar Rawdah, Jeddah, Saudi Arabia., Dadi H; Canadian Centre for Primary Immunodeficiency and the Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, The Hospital for Sick Children, Toronto, Ontario, Canada; Division of Immunology and Allergy, Department of Paediatrics, The Hospital for Sick Children and the University of Toronto, Toronto, Ontario, Canada., Vong L; Canadian Centre for Primary Immunodeficiency and the Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, The Hospital for Sick Children, Toronto, Ontario, Canada; Division of Immunology and Allergy, Department of Paediatrics, The Hospital for Sick Children and the University of Toronto, Toronto, Ontario, Canada., Betschel S; Clinical Immunology and Allergy, Department of Medicine, University of Toronto, Toronto, Ontario, Canada., Roifman CM; Canadian Centre for Primary Immunodeficiency and the Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, The Hospital for Sick Children, Toronto, Ontario, Canada; Division of Immunology and Allergy, Department of Paediatrics, The Hospital for Sick Children and the University of Toronto, Toronto, Ontario, Canada. Electronic address: chaim.roifman@sickkids.ca.
Source: The Journal of allergy and clinical immunology [J Allergy Clin Immunol] 2025 Nov; Vol. 156 (5), pp. 1341-1355. Date of Electronic Publication: 2025 Aug 05.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Mosby Country of Publication: United States NLM ID: 1275002 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-6825 (Electronic) Linking ISSN: 00916749 NLM ISO Abbreviation: J Allergy Clin Immunol Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1097-6825
DOI:10.1016/j.jaci.2025.07.021