Novel SYK Variant Causes Enhanced SYK Autophosphorylation and PI3K Activation in an Antibody-Deficient Patient
We identified a novel gain-of-function variant in SYK to underlie hypogammaglobulinemia and atypical autoinflammatory disease. Flowcytometric screening for phospho-S6 in lymphocytes of IEI patients can guide genetic diagnosis of B-cell signaling abnormalities.
Authors
- Julian J. Bosco (ORCID: https://orcid.org/0000-0001-5851-9751)
- Robyn E. O’Hehir (ORCID: https://orcid.org/0000-0002-3489-7595)
- Emily S.J. Edwards (ORCID: https://orcid.org/0000-0002-0240-4370)
- Go Hun Seo (ORCID: https://orcid.org/0000-0003-1518-1791)
- Menno C. van Zelm (ORCID: https://orcid.org/0000-0003-4161-1919)
- G. Snell (ORCID: https://orcid.org/0000-0002-9093-3669)
- Josh Chatelier (ORCID: https://orcid.org/0000-0003-0010-3467)
- Rin Khang
Institutions
- Erasmus MC (NL)
- The Alfred Hospital (AU)
- Seoul Medical Center (KR)
- Jeffrey Modell Foundation (AU)
- Monash University (AU)
- Erasmus University Rotterdam (NL)
Publication Details
- Journal
- Journal of Clinical Immunology
- Published
- 2025-10-20
- DOI
- https://doi.org/10.1007/s10875-025-01950-7
- Primary Topic
- Immunodeficiency and Autoimmune Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Monash University
- Grifols