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https://repository.monashhealth.org/monashhealthjspui/handle/1/53146| Conference/Presentation Title: | Utilising ASC Speck Assay to interrogate the pathogenicity of MEFV variants. | Authors: | Dai P.;Skinner O.;Lin X.;Telfser A.;Ruiz-Diaz S.;Saldanha R.G.;Frith K.;Lin M.-W.;Preece K.;Gray P.E.;Pinzo A.;Sullivan A.;Adelstein S.;Tong W.W.Y.;Parker M.J.S.;Girgis L.;Wainstein B.;Ojami S.;Deenick E.K.;Goldstein L.D.;Rogers M.J.;Phan T.G. | Monash Health Department(s): | Pathology Infectious Diseases and Clinical Microbiology |
Institution: | (Dai, Telfser, Ruiz-Diaz, Deenick, Phan) Precision Immunology Program, Garvan Institute of Medical Research, Sydney, NSW, Australia (Dai, Tong, Girgis, Goldstein, Phan) St Vincent's Healthcare Clinical Campus, School of Clinical Medicine, Faculty of Medicine and Health, UNSW Sydney, Sydney, NSW, Australia (Dai) Department of Immunology, Nepean Hospital, Sydney, NSW, Australia (Skinner, Rogers) Immune Biotherapies Program, Garvan Institute of Medical Research, Sydney, NSW, Australia (Skinner) Department of Microbiology and Immunology, The University of Melbourne at The Peter Doherty Institute for Infection and Immunity, Melbourne, VIC, Australia (Lin, Goldstein) Computational Biology Group, Data Science Platform, Garvan Institute of Medical Research, Sydney, NSW, Australia (Saldanha) Department of General Paediatrics, Sydney Children's Hospital, Sydney, NSW, Australia (Saldanha, Wainstein) Department of Paediatrics, Bankstown-Lidcombe Hospital, Sydney, NSW, Australia (Saldanha, Frith, Wainstein) Randwick Clinical Campus, School of Clinical Medicine, Faculty of Medicine and Health, UNSW Sydney, Sydney, NSW, Australia (Frith, Gray) Department of Immunology, Sydney Children's Hospital, Sydney, NSW, Australia (Lin) Department of Clinical Immunology, Westmead Hospital, Sydney, NSW, Australia (Lin) Department of Immunopathology, ICPMR, Westmead Hospital, Sydney, NSW, Australia (Lin) Centre of Immunology and Allergy Research, Westmead Institute of Medical Research, Sydney, NSW, Australia (Lin) Western Clinical School, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia (Preece) Paediatric Immunology Department, John Hunter Children's Hospital, Newcastle, NSW, Australia (Gray) Western Sydney University School of Medicine, Sydney, NSW, Australia (Pinzo, Sullivan) Queensland Children's Hospital, Brisbane, QLD, Australia (Adelstein) Department of Clinical Immunology and Allergy and Institute of Academic Medicine, Royal Prince Alfred Hospital, Sydney, NSW, Australia (Adelstein, Parker) Central Clinical School, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia (Tong) HIV and Immunology Department, St Vincent's Hospital, Sydney, NSW, Australia (Parker) Department of Rheumatology, Royal Prince Alfred Hospital, Sydney, NSW, Australia (Girgis) Department of Rheumatology, St Vincent's Hospital, Sydney, NSW, Australia (Ojami) Monash Pathology, Monash Health, Melbourne, VIC, Australia (Ojami) Monash Infectious Diseases, Monash Health, Melbourne, VIC, Australia (Ojami) Department of Medicine, Monash University, Melbourne, VIC, Australia (Deenick) Kirby Institute, Faculty of Medicine and Health, UNSW Sydney, Sydney, NSW, Australia |
Presentation/Conference Date: | 24-Jan-2025 | Copyright year: | 2025 | Publisher: | Elsevier B.V. | Publication information: | Pathology. Conference: Pathology Update 2025. Melbourne Convention and Exhibition Centre, Melbourne Australia. 57(Supplement 1) (pp S28-S29), 2025. Date of Publication: 01 Feb 2025. | Journal: | Pathology | Abstract: | Objective: To develop a rapid functional assay to validate variants of uncertain significance (VUS) in the MEFV gene. Method(s): Overactivity of the pyrin inflammasome pathway and ASC speck oligomerisation in response to stimulation with low concentration of Clostridium difficile toxin A was directly visualised by immunofluorescence microscopy. A semi-automated machine learning algorithm was developed to count cells and ASC specks. Result(s): The semi-automated ASC speck assay is able to discriminate between healthy controls and patients with Familial Mediterranean Fever (FMF) and pyrin inflammasome overactivity with high sensitivity. It is also able to discriminate pyrin inflammasome overactivity from other autoinflammatory disease controls with high specificity. Conclusion(s): The semi-automated ASC speck assay may be a useful test to functionally validate VUS in the MEFV gene and screen for pyrin inflammasome overactivity.Copyright © 2024 | Conference Name: | PATHOLOGY UPDATE 2025 | Conference Start Date: | 2025-02-21 | Conference End Date: | 2025-02-23 | Conference Location: | Melbourne Convention and Exhibition Centre, Melbourne, Australia | DOI: | http://monash.idm.oclc.org/login?url=http://acs.hcn.com.au/?acc=36265&url=https://dx.doi.org/10.1016/j.pathol.2024.12.138 | URI: | https://repository.monashhealth.org/monashhealthjspui/handle/1/53146 | Type: | Conference Abstract | Subjects: | familial Mediterranean fever immunofluorescence microscopy learning algorithm machine learning |
| Appears in Collections: | Conferences |
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