Autosomal-dominant Roquin-1 immunodeficiency and hyperinflammation.

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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
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  Data: Autosomal-dominant Roquin-1 immunodeficiency and hyperinflammation.
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  Data: <searchLink fieldCode="AU" term="%22Nahum+A%22">Nahum A</searchLink>; Department of Pediatrics, Kaplan Medical Center, Faculty of Medicine, Hebrew University of Jerusalem, Rehovot, Israel.<br /><searchLink fieldCode="AU" term="%22Sharfe+N%22">Sharfe N</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Merico+D%22">Merico D</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Williams+KW%22">Williams KW</searchLink>; Division of Pediatric Pulmonology, Allergy and Immunology, Department of Pediatrics, Medical University of South Carolina, Charleston, SC.<br /><searchLink fieldCode="AU" term="%22Aleman+D%22">Aleman D</searchLink>; Department of Mechanical & Industrial Engineering, University of Toronto, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Marshall+CR%22">Marshall CR</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Al+Shaqaq+A%22">Al Shaqaq A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Al+Ghamdi+A%22">Al Ghamdi A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Dadi+H%22">Dadi H</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Vong+L%22">Vong L</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Betschel+S%22">Betschel S</searchLink>; Clinical Immunology and Allergy, Department of Medicine, University of Toronto, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Roifman+CM%22">Roifman CM</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%221275002%22">The Journal of allergy and clinical immunology</searchLink> [J Allergy Clin Immunol] 2025 Nov; Vol. 156 (5), pp. 1341-1355. <i>Date of Electronic Publication: </i>2025 Aug 05.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Mosby%22">Mosby </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>1275002 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1097-6825 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200916749%22">00916749 </searchLink><i>NLM ISO Abbreviation: </i>J Allergy Clin Immunol <i>Subsets: </i>MEDLINE
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        Value: 10.1016/j.jaci.2025.07.021
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      – Code: eng
        Text: English
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      – TitleFull: Autosomal-dominant Roquin-1 immunodeficiency and hyperinflammation.
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              Text: 2025 Nov
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