Publications - Page 2 of 6

Publications 3 November 2025

A novel heterozygous pathogenic variant causing autoimmunity but not infectious susceptibility.

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is characterized by the triad of hypoparathyroidism, Addison's disease, and chronic mucocutaneous candidiasis due to biallelic deleterious variants in . However, emerging evidence has established that some monoallelic variants affecting specific functional domains may also drive [...]

Publications 3 November 2025

The seven enigmas of SARS-CoV-2: from the past to the future.

Five years ago, we launched the COVID Human Genetic Effort. Our goal was to explain the clinical variability among SARS-CoV-2-exposed individuals by searching for monogenic inborn errors of immunity (IEI) and their phenocopies. We deciphered the pathogenesis of critical COVID-19 [...]

Publications 30 September 2025

The potential impacts of human genetics on virus emergence.

Human monogenic traits can confer resistance to viral infection in exposed individuals or predisposition to severe disease in infected individuals. Enhanced susceptibility can be driven directly by mutations in genes essential for control of the virus or indirectly via the [...]

Publications 19 September 2025

Differential response of human plasmacytoid pre-dendritic cells to SARS-CoV-2 variants.

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) variants have been involved in various waves of the COVID-19 pandemic and showed different pathogenicity and inflammatory potential. Whether they can induce different patterns of innate immune activation in antigen-presenting cells is poorly [...]

Publications 4 September 2025

Autoantibodies neutralizing type I IFNs in 40% of patients with WNV encephalitis in seven new cohorts.

Mosquito-borne West Nile virus (WNV) infection is a growing global health problem. About 0.5% of infected individuals develop encephalitis. We previously showed that 40% of patients in six cohorts had WNV encephalitis because of circulating auto-antibodies (auto-Abs) neutralizing type I [...]

Publications 1 September 2025

Serum interferon-beta level determined by an ultrasensitive electrochemiluminescence immunoassay is increased in clinically active and inactive systemic lupus erythematosus.

Type I interferons, which play an important role in the pathogenesis of various autoimmune diseases such as systemic lupus erythematosus (SLE), are expressed at very low levels under physiological conditions. In this study, we focused on IFN-beta (IFN) β-for its [...]

Publications 7 July 2025

Enhanced TLR7-dependent production of type I interferon by pDCs underlies pandemic chilblains.

Outbreaks of chilblains were reported during the COVID-19 pandemic. Given the essential role of type I interferon (I-IFN) in protective immunity against SARS-CoV-2 and the association of chilblains with inherited type I interferonopathies, we hypothesized that excessive I-IFN responses to [...]

Publications 1 April 2025

Tracing the Evolution of Human Immunity Through Ancient DNA.

Infections have imposed strong selection pressures throughout human evolution, making the study of natural selection's effects on immunity genes highly complementary to disease-focused research. This review discusses how ancient DNA studies, which have revolutionized evolutionary genetics, increase our understanding of [...]

Publications 1 April 2025

Rapid Detection of Anti-IFN-α2 Autoantibodies Using a New Automated VIDAS Assay Prototype.

Autoantibodies neutralizing Type I interferons increase the risk of severe viral diseases and are linked to autoimmune conditions. The automated VIDAS assay is suitable for anti-IFN-α2 IgGs quantification, offering a swift, reliable, user-friendly, single test for clinical management.DOI: 10.1002/eji.202451516, PMID: [...]

Publications 17 March 2025

Post-transfusion activation of coagulation pathways during severe COVID-19 correlates with COVID-19 convalescent plasma antibody profiles.

Early antibody therapy can prevent severe SARS-CoV-2 infection (COVID-19). However, the effectiveness of COVID-19 convalescent plasma (CCP) therapy in treating severe COVID-19 remains inconclusive. To test a hypothesis that some CCP units are associated with a coagulopathy hazard in severe [...]