Cynthia Turnbull
A5072830888- Immune Cell Function and Interaction
- T-cell and B-cell Immunology
- Cytokine Signaling Pathways and Interactions
- Antifungal resistance and susceptibility
- Blood disorders and treatments
- Immune Response and Inflammation
- Immunodeficiency and Autoimmune Disorders
Australian National University
2022-2024
Abstract Although circumstantial evidence supports enhanced Toll-like receptor 7 (TLR7) signalling as a mechanism of human systemic autoimmune disease 1–7 , lupus-causing TLR7 gene variants is lacking. Here we describe lupus erythematosus caused by gain-of-function variant. sensor viral RNA 8 9 and binds to guanosine 10 – 12 . We identified de novo, previously undescribed missense Y264H variant in child with severe additional other patients lupus. The selectively increased sensing 2',3'-cGMP...
Systemic lupus erythematosus (SLE) is a heterogeneous autoimmune disease with clear genetic component. While most SLE patients carry rare gene variants in risk genes, little known about their contribution to pathogenesis. Amongst them, SH2B3—a negative regulator of cytokine and growth factor receptor signaling—harbors coding over 5% patients. Here, we show that unlike the variant found exclusively healthy controls, SH2B3 are predominantly hypomorphic alleles, failing suppress IFNGR signaling...
Autosomal dominant loss-of-function (LoF) variants in cytotoxic T-lymphocyte associated protein 4 (
Abstract Systemic lupus erythematosus (SLE) is a heterogeneous autoimmune disease, with clear genetic component. While most SLE patients carry rare gene variants in risk genes, little known about their contribution to disease pathogenesis. Amongst them, SH2B3 - negative regulator of cytokine and growth factor receptor signaling – harbors coding over 5% patients. Here we show that unlike the variant found exclusively healthy controls, are predominantly hypomorphic alleles. Generation two...