A5004790350- Immunodeficiency and Autoimmune Disorders
- Immune Cell Function and Interaction
- COVID-19 Clinical Research Studies
- T-cell and B-cell Immunology
- SARS-CoV-2 and COVID-19 Research
- Phagocytosis and Immune Regulation
- Chronic Lymphocytic Leukemia Research
- interferon and immune responses
- Diabetes and associated disorders
- Blood disorders and treatments
- COVID-19 epidemiological studies
- Animal Virus Infections Studies
Garvan Institute of Medical Research
2021-2024
Heterozygous loss-of-function (LOF) mutations in PIK3R1 (encoding phosphatidylinositol 3-kinase [PI3K] regulatory subunits) cause activated PI3Kδ syndrome 2 (APDS2), which has a similar clinical profile to APDS1, caused by heterozygous gain-of-function (GOF) PIK3CD the PI3K p110δ catalytic subunit). While several studies have established how GOF leads immune dysregulation, less is known about LOF alter cellular function. By studying novel CRISPR/Cas9 mouse model and patients' cells, we...
Children infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) develop less disease 2019 (COVID-19) than adults. The mechanisms for the age-specific differences and implications infection-induced immunity are beginning to be uncovered. We show by longitudinal multimodal analysis that SARS-CoV-2 leaves a small footprint in circulating T cell compartment children mild/asymptomatic COVID-19 compared adult household contacts same severity who had more evidence of systemic...
Abstract Activated PI3K delta syndrome 1 (APDS1) is caused by a heterozygous germline gain-of-function (GOF) variants in PIK3CD which encodes the p110δ catalytic subunit of phosphoinositide 3-kinase (PI3K). APDS1 patients display broad range clinical manifestations and perturbations cellular phenotype. One most striking features dysregulation T cell compartment characterised an increase memory cells, including Tfh concomitant decrease naïve cells. We have previously shown that many these...
SUMMARY Children infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) develop less disease 2019 (COVID-19) than adults. The mechanisms for the age-specific differences and implications infection-induced immunity are beginning to be uncovered. We show by longitudinal multimodal analysis that SARS-CoV-2 leaves a small footprint in circulating T cell compartment children mild/asymptomatic COVID-19 compared adult household contacts same severity who had more evidence of...
Abstract Activated PI3K Delta Syndrome (APDS) is a rare condition caused by heterozygous gain of function mutations in PIK3CD, which encodes the leukocyte-restricted p110δ catalytic subunit phosphoinositol 3-kinase (PI3K). activated downstream many T cell receptors and has been implicated control CD4+ helper differentiation, activation proliferation. APDS patients have increased activity that leads to several immune manifestations including lymphoproliferation, Th2-related pathologies...