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Human germline biallelic loss-of-function OSMR variants cause severe allergic disease.

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Title: Human germline biallelic loss-of-function OSMR variants cause severe allergic disease.
Authors: Samra S; Department of Pediatrics, British Columbia Children's Hospital, The University of British Columbia, Vancouver, Canada.; Experimental Medicine Program, Department of Medicine, The University of British Columbia, Vancouver, Canada., Sharma M; Department of Pediatrics, British Columbia Children's Hospital, The University of British Columbia, Vancouver, Canada., Körholz J; Department of Pediatrics, British Columbia Children's Hospital, The University of British Columbia, Vancouver, Canada.; Department of Pediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.; German Center for Child and Adolescent Health, Partner Site Leipzig/Dresden, Dresden, Germany., Liu Y; Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA., James A; Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA., Michalski C; Department of Pediatrics, British Columbia Children's Hospital, The University of British Columbia, Vancouver, Canada., Yousefi P; Department of Pediatrics, British Columbia Children's Hospital, The University of British Columbia, Vancouver, Canada., Del Bel KL; Department of Pediatrics, British Columbia Children's Hospital, The University of British Columbia, Vancouver, Canada., Lu HY; Department of Pediatrics, British Columbia Children's Hospital, The University of British Columbia, Vancouver, Canada., Sharma AA; Department of Pathology, Emory University, Atlanta, GA, USA., Tarailo-Graovac M; Departments of Biochemistry, Molecular Biology and Medical Genetics, Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Canada., Dalmann J; Department of Pediatrics, British Columbia Children's Hospital, The University of British Columbia, Vancouver, Canada., Buder L; Department of Pediatrics, British Columbia Children's Hospital, The University of British Columbia, Vancouver, Canada., Modi B; Department of Pediatrics, British Columbia Children's Hospital, The University of British Columbia, Vancouver, Canada., Wiedemuth R; Department of Pediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany., Golding L; Department of Pediatrics, British Columbia Children's Hospital, The University of British Columbia, Vancouver, Canada., Drögemöller B; Department of Biochemistry and Medical Genetics, Children's Hospital Research Institute of Manitoba, University of Manitoba, Winnipeg, Canada., Blanchard-Rohner G; Unit of Immunology and Vaccinology, Division of General Pediatrics, Department of Pediatrics, Gynecology and Obstetrics, Geneva University Hospitals, University of Geneva, Geneva, Switzerland., Senger C; Department of Pathology and Laboratory Medicine, British Columbia Children's Hospital, The University of British Columbia, Vancouver, Canada., Rehmus W; Department of Pediatrics and Dermatology, The University of British Columbia, Vancouver, Canada., Prendiville JS; Department of Pediatrics, British Columbia Children's Hospital, The University of British Columbia, Vancouver, Canada., Mangino M; Department of Pediatrics, British Columbia Children's Hospital, The University of British Columbia, Vancouver, Canada., Ross CJ; Department of Pharmaceutical Sciences, University of British Columbia, Vancouver, Canada., van Karnebeek CDM; Emma Center for Personalized Medicine, Department of Pediatrics and Human Genetics, Amsterdam University Medical Center, Amsterdam Gastroenterology and Metabolism, University of Amsterdam, Amsterdam, Netherlands., Wasserman WW; Centre for Molecular Medicine and Therapeutics, British Columbia Children's Hospital Research Institute, Vancouver, Canada.; Department of Medical Genetics, The University of British Columbia, Vancouver, Canada., D Rosenzweig S; Immunology Service, Clinical Center, National Institutes of Health, Bethesda, MD, USA., Niemela J; Immunology Service, Clinical Center, National Institutes of Health, Bethesda, MD, USA., Lavoie PM; Department of Pediatrics, British Columbia Children's Hospital, The University of British Columbia, Vancouver, Canada., Prathibha PM; Department of Dermatology, Narayana Hrudayalaya Hospital, Mazumdar-Shaw Medical Center, Bangalore, India., Wegehaupt O; Center for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, Institute for Immunodeficiency, University of Freiburg, Freiburg, Germany.; Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Biggs CM; Department of Pediatrics, British Columbia Children's Hospital, The University of British Columbia, Vancouver, Canada., Boehnke M; Department of Biostatistics, Center of Statistical Genetics, University of Michigan, Ann Arbor, MI, USA., Kinnunen L; Department of Public Health and Welfare, Finnish Institute for Health and Welfare, Helsinki, Finland.; Research Programs Unit, Faculty of Medicine, Clinical and Molecular Metabolism, University of Helsinki, Helsinki, Finland., Koistinen HA; Department of Public Health and Welfare, Finnish Institute for Health and Welfare, Helsinki, Finland.; Research Programs Unit, Faculty of Medicine, Clinical and Molecular Metabolism, University of Helsinki, Helsinki, Finland.; Department of Medicine, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Minerva Foundation Institute for Medical Research, Helsinki, Finland., McKinnon ML; Department of Medical Genetics, The University of British Columbia, Vancouver, Canada., Breuer JM; Pediatric Pulmonology and Allergology, Faculty of Medicine and University Hospital Cologne, University Children's Hospital Cologne, University of Cologne, Cologne, Germany.; Centre for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, Germany., Schönenkorb J; Pediatric Pulmonology and Allergology, Faculty of Medicine and University Hospital Cologne, University Children's Hospital Cologne, University of Cologne, Cologne, Germany.; Centre for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, Germany., Brock R; Pediatric Pulmonology and Allergology, Faculty of Medicine and University Hospital Cologne, University Children's Hospital Cologne, University of Cologne, Cologne, Germany.; Centre for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, Germany., Thull S; Faculty of Medicine and University Hospital Cologne, Institute of Human Genetics, University of Cologne, Cologne, Germany., Netzer C; Faculty of Medicine and University Hospital Cologne, Institute of Human Genetics, University of Cologne, Cologne, Germany., Velmans C; Faculty of Medicine and University Hospital Cologne, Institute of Human Genetics, University of Cologne, Cologne, Germany., Altuwaijri N; Genomic Medicine Center of Excellence, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia., Hamadah IR; Department of Dermatology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Altassan R; Medical Genomic Department, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alfares A; Genomic Medicine Center of Excellence, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia.; King Faisal Specialist Hospital and Research Center, Medina, Saudi Arabia., Maddirevula S; Genomic Medicine Center of Excellence, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia.; King Faisal Specialist Hospital and Research Center, Medina, Saudi Arabia., Patil SJ; Division of Medical Genetics, Narayana Hrudayalaya Hospital, Mazumdar-Shaw Medical Center, Bangalore, India., Bayer DK; Department of Pediatrics, University of Iowa Stead Family Children's Hospital, Iowa City, IA, USA., Lyons JJ; Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.; Division of Allergy & Immunology, Department of Medicine, University of California San Diego, La Jolla, CA, USA.; Veterans Affairs San Diego Healthcare System, La Jolla, CA, USA., Turvey SE; Department of Pediatrics, British Columbia Children's Hospital, The University of British Columbia, Vancouver, Canada.; Experimental Medicine Program, Department of Medicine, The University of British Columbia, Vancouver, Canada.
Source: Journal of human immunity [J Hum Immun] 2026 May 28; Vol. 2 (4), pp. e20260067. Date of Electronic Publication: 2026 May 28 (Print Publication: 2026).
Publication Type: Journal Article
Journal Info: Publisher: Rockefeller University Press Country of Publication: United States NLM ID: 9919054337406676 Publication Model: eCollection Cited Medium: Internet ISSN: 3065-8993 (Electronic) Linking ISSN: 30658993 NLM ISO Abbreviation: J Hum Immun Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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PubType: Academic Journal
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  Data: Human germline biallelic loss-of-function OSMR variants cause severe allergic disease.
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  Data: <searchLink fieldCode="AU" term="%22Samra+S%22">Samra S</searchLink>; Department of Pediatrics, British Columbia Children's Hospital, The University of British Columbia, Vancouver, Canada.; Experimental Medicine Program, Department of Medicine, The University of British Columbia, Vancouver, Canada.<br /><searchLink fieldCode="AU" term="%22Sharma+M%22">Sharma M</searchLink>; Department of Pediatrics, British Columbia Children's Hospital, The University of British Columbia, Vancouver, Canada.<br /><searchLink fieldCode="AU" term="%22Körholz+J%22">Körholz J</searchLink>; Department of Pediatrics, British Columbia Children's Hospital, The University of British Columbia, Vancouver, Canada.; Department of Pediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.; German Center for Child and Adolescent Health, Partner Site Leipzig/Dresden, Dresden, Germany.<br /><searchLink fieldCode="AU" term="%22Liu+Y%22">Liu Y</searchLink>; Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22James+A%22">James A</searchLink>; Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Michalski+C%22">Michalski C</searchLink>; Department of Pediatrics, British Columbia Children's Hospital, The University of British Columbia, Vancouver, Canada.<br /><searchLink fieldCode="AU" term="%22Yousefi+P%22">Yousefi P</searchLink>; Department of Pediatrics, British Columbia Children's Hospital, The University of British Columbia, Vancouver, Canada.<br /><searchLink fieldCode="AU" term="%22Del+Bel+KL%22">Del Bel KL</searchLink>; Department of Pediatrics, British Columbia Children's Hospital, The University of British Columbia, Vancouver, Canada.<br /><searchLink fieldCode="AU" term="%22Lu+HY%22">Lu HY</searchLink>; Department of Pediatrics, British Columbia Children's Hospital, The University of British Columbia, Vancouver, Canada.<br /><searchLink fieldCode="AU" term="%22Sharma+AA%22">Sharma AA</searchLink>; Department of Pathology, Emory University, Atlanta, GA, USA.<br /><searchLink fieldCode="AU" term="%22Tarailo-Graovac+M%22">Tarailo-Graovac M</searchLink>; Departments of Biochemistry, Molecular Biology and Medical Genetics, Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Canada.<br /><searchLink fieldCode="AU" term="%22Dalmann+J%22">Dalmann J</searchLink>; Department of Pediatrics, British Columbia Children's Hospital, The University of British Columbia, Vancouver, Canada.<br /><searchLink fieldCode="AU" term="%22Buder+L%22">Buder L</searchLink>; Department of Pediatrics, British Columbia Children's Hospital, The University of British Columbia, Vancouver, Canada.<br /><searchLink fieldCode="AU" term="%22Modi+B%22">Modi B</searchLink>; Department of Pediatrics, British Columbia Children's Hospital, The University of British Columbia, Vancouver, Canada.<br /><searchLink fieldCode="AU" term="%22Wiedemuth+R%22">Wiedemuth R</searchLink>; Department of Pediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.<br /><searchLink fieldCode="AU" term="%22Golding+L%22">Golding L</searchLink>; Department of Pediatrics, British Columbia Children's Hospital, The University of British Columbia, Vancouver, Canada.<br /><searchLink fieldCode="AU" term="%22Drögemöller+B%22">Drögemöller B</searchLink>; Department of Biochemistry and Medical Genetics, Children's Hospital Research Institute of Manitoba, University of Manitoba, Winnipeg, Canada.<br /><searchLink fieldCode="AU" term="%22Blanchard-Rohner+G%22">Blanchard-Rohner G</searchLink>; Unit of Immunology and Vaccinology, Division of General Pediatrics, Department of Pediatrics, Gynecology and Obstetrics, Geneva University Hospitals, University of Geneva, Geneva, Switzerland.<br /><searchLink fieldCode="AU" term="%22Senger+C%22">Senger C</searchLink>; Department of Pathology and Laboratory Medicine, British Columbia Children's Hospital, The University of British Columbia, Vancouver, Canada.<br /><searchLink fieldCode="AU" term="%22Rehmus+W%22">Rehmus W</searchLink>; Department of Pediatrics and Dermatology, The University of British Columbia, Vancouver, Canada.<br /><searchLink fieldCode="AU" term="%22Prendiville+JS%22">Prendiville JS</searchLink>; Department of Pediatrics, British Columbia Children's Hospital, The University of British Columbia, Vancouver, Canada.<br /><searchLink fieldCode="AU" term="%22Mangino+M%22">Mangino M</searchLink>; Department of Pediatrics, British Columbia Children's Hospital, The University of British Columbia, Vancouver, Canada.<br /><searchLink fieldCode="AU" term="%22Ross+CJ%22">Ross CJ</searchLink>; Department of Pharmaceutical Sciences, University of British Columbia, Vancouver, Canada.<br /><searchLink fieldCode="AU" term="%22van+Karnebeek+CDM%22">van Karnebeek CDM</searchLink>; Emma Center for Personalized Medicine, Department of Pediatrics and Human Genetics, Amsterdam University Medical Center, Amsterdam Gastroenterology and Metabolism, University of Amsterdam, Amsterdam, Netherlands.<br /><searchLink fieldCode="AU" term="%22Wasserman+WW%22">Wasserman WW</searchLink>; Centre for Molecular Medicine and Therapeutics, British Columbia Children's Hospital Research Institute, Vancouver, Canada.; Department of Medical Genetics, The University of British Columbia, Vancouver, Canada.<br /><searchLink fieldCode="AU" term="%22D+Rosenzweig+S%22">D Rosenzweig S</searchLink>; Immunology Service, Clinical Center, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Niemela+J%22">Niemela J</searchLink>; Immunology Service, Clinical Center, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Lavoie+PM%22">Lavoie PM</searchLink>; Department of Pediatrics, British Columbia Children's Hospital, The University of British Columbia, Vancouver, Canada.<br /><searchLink fieldCode="AU" term="%22Prathibha+PM%22">Prathibha PM</searchLink>; Department of Dermatology, Narayana Hrudayalaya Hospital, Mazumdar-Shaw Medical Center, Bangalore, India.<br /><searchLink fieldCode="AU" term="%22Wegehaupt+O%22">Wegehaupt O</searchLink>; Center for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, Institute for Immunodeficiency, University of Freiburg, Freiburg, Germany.; Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.<br /><searchLink fieldCode="AU" term="%22Biggs+CM%22">Biggs CM</searchLink>; Department of Pediatrics, British Columbia Children's Hospital, The University of British Columbia, Vancouver, Canada.<br /><searchLink fieldCode="AU" term="%22Boehnke+M%22">Boehnke M</searchLink>; Department of Biostatistics, Center of Statistical Genetics, University of Michigan, Ann Arbor, MI, USA.<br /><searchLink fieldCode="AU" term="%22Kinnunen+L%22">Kinnunen L</searchLink>; Department of Public Health and Welfare, Finnish Institute for Health and Welfare, Helsinki, Finland.; Research Programs Unit, Faculty of Medicine, Clinical and Molecular Metabolism, University of Helsinki, Helsinki, Finland.<br /><searchLink fieldCode="AU" term="%22Koistinen+HA%22">Koistinen HA</searchLink>; Department of Public Health and Welfare, Finnish Institute for Health and Welfare, Helsinki, Finland.; Research Programs Unit, Faculty of Medicine, Clinical and Molecular Metabolism, University of Helsinki, Helsinki, Finland.; Department of Medicine, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Minerva Foundation Institute for Medical Research, Helsinki, Finland.<br /><searchLink fieldCode="AU" term="%22McKinnon+ML%22">McKinnon ML</searchLink>; Department of Medical Genetics, The University of British Columbia, Vancouver, Canada.<br /><searchLink fieldCode="AU" term="%22Breuer+JM%22">Breuer JM</searchLink>; Pediatric Pulmonology and Allergology, Faculty of Medicine and University Hospital Cologne, University Children's Hospital Cologne, University of Cologne, Cologne, Germany.; Centre for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, Germany.<br /><searchLink fieldCode="AU" term="%22Schönenkorb+J%22">Schönenkorb J</searchLink>; Pediatric Pulmonology and Allergology, Faculty of Medicine and University Hospital Cologne, University Children's Hospital Cologne, University of Cologne, Cologne, Germany.; Centre for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, Germany.<br /><searchLink fieldCode="AU" term="%22Brock+R%22">Brock R</searchLink>; Pediatric Pulmonology and Allergology, Faculty of Medicine and University Hospital Cologne, University Children's Hospital Cologne, University of Cologne, Cologne, Germany.; Centre for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, Germany.<br /><searchLink fieldCode="AU" term="%22Thull+S%22">Thull S</searchLink>; Faculty of Medicine and University Hospital Cologne, Institute of Human Genetics, University of Cologne, Cologne, Germany.<br /><searchLink fieldCode="AU" term="%22Netzer+C%22">Netzer C</searchLink>; Faculty of Medicine and University Hospital Cologne, Institute of Human Genetics, University of Cologne, Cologne, Germany.<br /><searchLink fieldCode="AU" term="%22Velmans+C%22">Velmans C</searchLink>; Faculty of Medicine and University Hospital Cologne, Institute of Human Genetics, University of Cologne, Cologne, Germany.<br /><searchLink fieldCode="AU" term="%22Altuwaijri+N%22">Altuwaijri N</searchLink>; Genomic Medicine Center of Excellence, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Hamadah+IR%22">Hamadah IR</searchLink>; Department of Dermatology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Altassan+R%22">Altassan R</searchLink>; Medical Genomic Department, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Alfares+A%22">Alfares A</searchLink>; Genomic Medicine Center of Excellence, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia.; King Faisal Specialist Hospital and Research Center, Medina, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Maddirevula+S%22">Maddirevula S</searchLink>; Genomic Medicine Center of Excellence, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia.; King Faisal Specialist Hospital and Research Center, Medina, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Patil+SJ%22">Patil SJ</searchLink>; Division of Medical Genetics, Narayana Hrudayalaya Hospital, Mazumdar-Shaw Medical Center, Bangalore, India.<br /><searchLink fieldCode="AU" term="%22Bayer+DK%22">Bayer DK</searchLink>; Department of Pediatrics, University of Iowa Stead Family Children's Hospital, Iowa City, IA, USA.<br /><searchLink fieldCode="AU" term="%22Lyons+JJ%22">Lyons JJ</searchLink>; Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.; Division of Allergy & Immunology, Department of Medicine, University of California San Diego, La Jolla, CA, USA.; Veterans Affairs San Diego Healthcare System, La Jolla, CA, USA.<br /><searchLink fieldCode="AU" term="%22Turvey+SE%22">Turvey SE</searchLink>; Department of Pediatrics, British Columbia Children's Hospital, The University of British Columbia, Vancouver, Canada.; Experimental Medicine Program, Department of Medicine, The University of British Columbia, Vancouver, Canada.
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            NameFull: Patil SJ
      – PersonEntity:
          Name:
            NameFull: Bayer DK
      – PersonEntity:
          Name:
            NameFull: Lyons JJ
      – PersonEntity:
          Name:
            NameFull: Turvey SE
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 28
              M: 05
              Text: 2026 May 28
              Type: published
              Y: 2026
          Identifiers:
            – Type: issn-electronic
              Value: 3065-8993
          Numbering:
            – Type: volume
              Value: 2
            – Type: issue
              Value: 4
          Titles:
            – TitleFull: Journal of human immunity
              Type: main
ResultId 1