Area of research
Immunology · Molecular Biology
Research interest
Research interests include Biology, Medicine, Immunology, Interferon, Phenotype, and Genetics.
A transcriptomic microglia taxonomy across mouse and human pathologies
Human life within a narrow range: The lethal ups and downs of type I interferons
Gain-of-function human <i>UNC93B1</i> variants cause systemic lupus erythematosus and chilblain lupus
Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications
The brain microvasculature is a primary mediator of interferon-α neurotoxicity in human cerebral interferonopathies
Hematopoietic Stem Cell Transplantation for C1q Deficiency: A Study on Behalf of the EBMT Inborn Errors Working Party
Autoinflammation in patients with leukocytic CBL loss of heterozygosity is caused by constitutive ERK-mediated monocyte activation
ARF1 prevents aberrant type I interferon induction by regulating STING activation and recycling
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria
The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS, SAVI and AGS
A partial form of inherited human USP18 deficiency underlies infection and inflammation
The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology Points to Consider for Diagnosis and Management of Autoinflammatory Type I Interferonopathies: <scp>CANDLE</scp>/<scp>PRAAS</scp>, <scp>SAVI</scp>, and <scp>AGS</scp>
DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signaling
Preexisting autoantibodies to type I IFNs underlie critical COVID-19 pneumonia in patients with APS-1
Inflammatory profiles across the spectrum of disease reveal a distinct role for GM-CSF in severe COVID-19
Enhanced cGAS-STING–dependent interferon signaling associated with mutations in ATAD3A
LACC1 deficiency links juvenile arthritis with autophagy and metabolism in macrophages
Overview of STING-Associated Vasculopathy with Onset in Infancy (SAVI) Among 21 Patients
cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing
Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function
Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts
Adult-Onset ANCA-Associated Vasculitis in SAVI: Extension of the Phenotypic Spectrum, Case Report and Review of the Literature
Bloom syndrome protein restrains innate immune sensing of micronuclei by cGAS
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia
Anti-MDA5 juvenile idiopathic inflammatory myopathy: a specific subgroup defined by differentially enhanced interferon-α signalling
COPA Syndrome as a Cause of Lupus Nephritis
Mitochondrial double-stranded RNA triggers antiviral signalling in humans
Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency
Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome
Severe combined immunodeficiency in stimulator of interferon genes (STING) V154M/wild-type mice