1/ In Journal of Experimental Medicine, Tessa Campbell, Qian Zhang, Zhiyong Liu, Isabelle Meyts, and Yenan Bryceson report the genetic, immunological, and clinical features of 7 IRF7-deficient patients from 6 families and 5 ancestries (rupress.org/jem/article/21…).

1/ In Science Immunology we report that about 25% of vaccinated patients with critical C-19 pneumonia and a normal Ab response to the vaccine have high levels of auto-Abs to type I IFN (science.org/doi/10.1126/sc…).

1/ In Journal of Experimental Medicine, Qian Zhang, Daniela Matuozzo, @Jeremie_LP, Rice Lab, Shen-Ying Zhang, Aurelie Cobat, report recessive inborn errors of type I IFN immunity in 12 of 112 children (10.7%) who were hospitalized for COVID-19 pneumonia (doi.org/10.1084/jem.20…).

We are very happy to share our work about the pathogenic mechanism of anti-IFN-gamma autoantibodies through isolating the mAb from patients

1/ Happy to share a perspective of our 30-year-long journey searching for human genetic and immunological determinants of infectious diseases (sciencedirect.com/science/articl…).

In the latest issue! From rare disorders of immunity to common determinants of infection: Following the mechanistic thread dlvr.it/SX0KPJ

Our new study on patients with inborn errors of immunity and severe COVID-19. The results may help us to understand why some children can be very sick with COVID-19

1/ We are happy to share with you our paper in Journal of Experimental Medicine reporting auto-Abs to type I IFNs in 5% of patients with critical influenza pneumonia (rupress.org/jem/article/21…; youtu.be/o8l-63MDb9g).

1/10. We developed BPHunter as a genome-wide computational approach for the detection of intronic variants that may disrupt a branchpoint (BP), thereby mRNA splicing. Paper here: pnas.org/doi/10.1073/pn…; Software here: hgidsoft.rockefeller.edu/BPHunter, github.com/casanova-lab/B….

Fulminant Viral Hepatitis in Two Siblings with Inherited IL-10RB Deficiency pubmed.ncbi.nlm.nih.gov/36308662/

1/ We are excited to announce that we are looking for a post-doctoral fellow in Computational Genetics to join our Dry Lab in Paris at Institut Imagine! Ideal candidates are both energetic and enthusiastic.

1/ Happy to share our latest discovery and characterization of inherited ITK deficiency associated with tuberculosis in three patients: rupress.org/jem/article/22….

Human type I IFN deficiency does not impair B cell response to #SARSCoV2 mRNA vaccination, say Aurélien Sokal, Paul Bastard, Casanova Lab @MahevasMatthieu & colleagues bit.ly/3NHeHpb Pascal Chappert GiovannaBarbaSpaeth|@giobarbaspaeth.bsky.social Fourati Slim #InfectiousDisease #Immunodeficiency #COVID19

Félicitations au Dr Laurent Abel Laurent Abel, lauréat du Grand Prix 2022 de la Fondation pour la Recherche Médicale pour ses recherches sur l’étude génétique et immunologique des maladies infectieuses 👏 🔬 En savoir plus sur ses travaux : bit.ly/3DX5N1c

1/ Together with the COVID Human Genetics Effort, we are happy to report our finding of inborn errors of the OAS-RNase L pathway in children with MIS-C #Misc #Pims in Science Magazine (science.org/doi/10.1126/sc…)

A great review that you don't want to miss! rupress.org/jem/article/22…

I will have the great honor of presenting part of my PhD work at the Encephalitis International 2023 meeting next December, in London. Thanks a lot for the amazing opportunity! 🤩

1/ It was wonderful to attend the 2024 Fengling Clinical Immunology Forum at the Children’s Hospital of Fudan University in Shanghai, organized by Prof. Xiaochuan Wang. All Chinese teams in the field of human inborn errors of immunity were in attendance.

1/ We are excited to share our new paper from Fahd Al Qureshah, PhD | فهد آل قريشه published today in Journal of Experimental Medicine about humans with autosomal dominant IFNAR1 deficiency (doi.org/10.1084/jem.20…).