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. |
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| 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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| ISSN: | 1573-2592 |
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| DOI: | 10.1007/s10875-025-01950-7 |
