Manon Roynard
A5058214332- Immunodeficiency and Autoimmune Disorders
- Immune Cell Function and Interaction
- Tuberculosis Research and Epidemiology
- Mycobacterium research and diagnosis
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- T-cell and B-cell Immunology
- Inflammasome and immune disorders
- RNA Research and Splicing
- Blood disorders and treatments
- Phagocytosis and Immune Regulation
- Immune responses and vaccinations
- interferon and immune responses
- RNA modifications and cancer
- Immune Response and Inflammation
- Diabetes and associated disorders
- COVID-19 Clinical Research Studies
- SARS-CoV-2 and COVID-19 Research
Institut des Maladies Génétiques Imagine
2020-2022
Université Paris Cité
2020-2022
Inserm
2020-2021
Human Genetic of Infectious Diseases
2021
Institut de Génétique Humaine
2021
Mendelian susceptibility to mycobacterial disease (MSMD) is characterized by a selective predisposition clinical caused the Bacille Calmette-Guérin (BCG) vaccine and environmental mycobacteria. The known genetic etiologies of MSMD are inborn errors IFN-γ immunity due mutations 15 genes controlling production or response IFN-γ. Since first MSMD-causing were reported in 1996, biallelic encoding receptor 1 (IFN-γR1) IFN-γR2 have been many patients diverse ancestries. Surprisingly, gene cytokine...
Human inborn errors of IFN-γ underlie mycobacterial disease, due to insufficient production by lymphoid cells, impaired myeloid cell responses this cytokine, or both. We report four patients from two unrelated kindreds with intermittent monocytosis and including bacillus Calmette-Guérin-osis disseminated tuberculosis, without any known error IFN-γ. The are homozygous for ZNFX1 variants (p.S959* p.E1606Rfs*10) predicted be loss function (pLOF). There no subjects pLOF in public databases. is a...
Human USP18 is an interferon (IFN)-stimulated gene product and a negative regulator of type I IFN (IFN-I) signaling. It also removes covalently linked ISG15 from proteins, in process called deISGylation. In turn, prevents being degraded by the proteasome. Autosomal recessive complete deficiency life-threatening infancy owing to uncontrolled IFN-I–mediated autoinflammation. We report three Moroccan siblings with autoinflammation mycobacterial disease who are homozygous for new variant....
Patients with autosomal recessive protein kinase C δ (PKCδ) deficiency suffer from childhood-onset autoimmunity, including systemic lupus erythematosus. They also recurrent infections that overlap those seen in patients chronic granulomatous disease (CGD), a caused by defects of the phagocyte NADPH oxidase and lack reactive oxygen species (ROS) production. We studied an international cohort 17 PKCδ-deficient found their EBV-B cells monocyte-derived phagocytes produced only small amounts ROS...
Summary Inborn errors of human IFN-γ immunity underlie mycobacterial disease. We report a patient with disease due to an inherited deficiency the transcription factor T-bet. This abolishes expression T-bet target genes, including IFNG , by altering chromatin accessibility and DNA methylation in CD4 + T cells. The has profoundly diminished counts mycobacterial-reactive circulating NK, invariant NKT (iNKT), mucosal-associated (MAIT), Vδ2 γδ lymphocytes, non-mycobacterial-reactive classic H 1...