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Novel SYK Variant Causes Enhanced SYK Autophosphorylation and PI3K Activation in an Antibody-Deficient Patient.

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Title: Novel SYK Variant Causes Enhanced SYK Autophosphorylation and PI3K Activation in an Antibody-Deficient Patient.
Authors: Edwards ESJ; Allergy and Clinical Immunology Laboratory, Department of Immunology, School of Translational Medicine, Monash University, 89 Commercial Rd, Melbourne, VIC, 3004, Australia. emily.edwards@monash.edu.; Department of Allergy, Immunology and Respiratory Medicine, School of Translational Medicine, Alfred Hospital, Melbourne, VIC, Australia. emily.edwards@monash.edu.; The Jeffrey Modell Diagnostic and Research Centre for Primary Immunodeficiencies, Melbourne, VIC, Australia. emily.edwards@monash.edu., Chatelier J; Department of Allergy, Immunology and Respiratory Medicine, School of Translational Medicine, Alfred Hospital, Melbourne, VIC, Australia.; The Jeffrey Modell Diagnostic and Research Centre for Primary Immunodeficiencies, Melbourne, VIC, Australia., Snell GI; Lung Transplant Service, Alfred Hospital, Melbourne, VIC, Australia., Seo GH; Division of Medical Genetics, 3billion Inc, Seoul, South Korea., Khang R; Division of Medical Genetics, 3billion Inc, Seoul, South Korea., O'Hehir RE; Allergy and Clinical Immunology Laboratory, Department of Immunology, School of Translational Medicine, Monash University, 89 Commercial Rd, Melbourne, VIC, 3004, Australia.; Department of Allergy, Immunology and Respiratory Medicine, School of Translational Medicine, Alfred Hospital, Melbourne, VIC, Australia.; The Jeffrey Modell Diagnostic and Research Centre for Primary Immunodeficiencies, Melbourne, VIC, Australia., Bosco JJ; Department of Allergy, Immunology and Respiratory Medicine, School of Translational Medicine, Alfred Hospital, Melbourne, VIC, Australia.; The Jeffrey Modell Diagnostic and Research Centre for Primary Immunodeficiencies, Melbourne, VIC, Australia., van Zelm MC; Allergy and Clinical Immunology Laboratory, Department of Immunology, School of Translational Medicine, Monash University, 89 Commercial Rd, Melbourne, VIC, 3004, Australia. m.vanzelm@erasmusmc.nl.; Department of Allergy, Immunology and Respiratory Medicine, School of Translational Medicine, Alfred Hospital, Melbourne, VIC, Australia. m.vanzelm@erasmusmc.nl.; The Jeffrey Modell Diagnostic and Research Centre for Primary Immunodeficiencies, Melbourne, VIC, Australia. m.vanzelm@erasmusmc.nl.; Department of Immunology, Erasmus MC, University Medical Center, Dr. Molewaterplein 50, Rotterdam, 3015GD, the Netherlands. m.vanzelm@erasmusmc.nl.
Source: Journal of clinical immunology [J Clin Immunol] 2025 Oct 20; Vol. 45 (1), pp. 147. Date of Electronic Publication: 2025 Oct 20.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Springer Country of Publication: Netherlands NLM ID: 8102137 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-2592 (Electronic) Linking ISSN: 02719142 NLM ISO Abbreviation: J Clin Immunol Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Novel SYK Variant Causes Enhanced SYK Autophosphorylation and PI3K Activation in an Antibody-Deficient Patient.
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  Data: <searchLink fieldCode="AU" term="%22Edwards+ESJ%22">Edwards ESJ</searchLink>; Allergy and Clinical Immunology Laboratory, Department of Immunology, School of Translational Medicine, Monash University, 89 Commercial Rd, Melbourne, VIC, 3004, Australia. emily.edwards@monash.edu.; Department of Allergy, Immunology and Respiratory Medicine, School of Translational Medicine, Alfred Hospital, Melbourne, VIC, Australia. emily.edwards@monash.edu.; The Jeffrey Modell Diagnostic and Research Centre for Primary Immunodeficiencies, Melbourne, VIC, Australia. emily.edwards@monash.edu.<br /><searchLink fieldCode="AU" term="%22Chatelier+J%22">Chatelier J</searchLink>; Department of Allergy, Immunology and Respiratory Medicine, School of Translational Medicine, Alfred Hospital, Melbourne, VIC, Australia.; The Jeffrey Modell Diagnostic and Research Centre for Primary Immunodeficiencies, Melbourne, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Snell+GI%22">Snell GI</searchLink>; Lung Transplant Service, Alfred Hospital, Melbourne, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Seo+GH%22">Seo GH</searchLink>; Division of Medical Genetics, 3billion Inc, Seoul, South Korea.<br /><searchLink fieldCode="AU" term="%22Khang+R%22">Khang R</searchLink>; Division of Medical Genetics, 3billion Inc, Seoul, South Korea.<br /><searchLink fieldCode="AU" term="%22O'Hehir+RE%22">O'Hehir RE</searchLink>; Allergy and Clinical Immunology Laboratory, Department of Immunology, School of Translational Medicine, Monash University, 89 Commercial Rd, Melbourne, VIC, 3004, Australia.; Department of Allergy, Immunology and Respiratory Medicine, School of Translational Medicine, Alfred Hospital, Melbourne, VIC, Australia.; The Jeffrey Modell Diagnostic and Research Centre for Primary Immunodeficiencies, Melbourne, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Bosco+JJ%22">Bosco JJ</searchLink>; Department of Allergy, Immunology and Respiratory Medicine, School of Translational Medicine, Alfred Hospital, Melbourne, VIC, Australia.; The Jeffrey Modell Diagnostic and Research Centre for Primary Immunodeficiencies, Melbourne, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22van+Zelm+MC%22">van Zelm MC</searchLink>; Allergy and Clinical Immunology Laboratory, Department of Immunology, School of Translational Medicine, Monash University, 89 Commercial Rd, Melbourne, VIC, 3004, Australia. m.vanzelm@erasmusmc.nl.; Department of Allergy, Immunology and Respiratory Medicine, School of Translational Medicine, Alfred Hospital, Melbourne, VIC, Australia. m.vanzelm@erasmusmc.nl.; The Jeffrey Modell Diagnostic and Research Centre for Primary Immunodeficiencies, Melbourne, VIC, Australia. m.vanzelm@erasmusmc.nl.; Department of Immunology, Erasmus MC, University Medical Center, Dr. Molewaterplein 50, Rotterdam, 3015GD, the Netherlands. m.vanzelm@erasmusmc.nl.
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  Data: <searchLink fieldCode="JN" term="%228102137%22">Journal of clinical immunology</searchLink> [J Clin Immunol] 2025 Oct 20; Vol. 45 (1), pp. 147. <i>Date of Electronic Publication: </i>2025 Oct 20.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer%22">Springer </searchLink><i>Country of Publication: </i>Netherlands <i>NLM ID: </i>8102137 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1573-2592 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2202719142%22">02719142 </searchLink><i>NLM ISO Abbreviation: </i>J Clin Immunol <i>Subsets: </i>MEDLINE
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              Text: 2025 Oct 20
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