Stéphanie Boisson‐Dupuis

Humans homozygous for rare or common hypomorphic IL23R variants are prone to tuberculosis

Homozygosity for hypomorphic IL23R variants (G149R, G300V, R381Q) partly impairs IL-23-dependent IFN-γ production in patient cells; with L372F (effect inferred), they are enriched in tuberculosis, not MSMD or CMC patients.

ARAP2 regulates responses to interferon-gamma by restricting SOCS1

This study identifies ARAP2 as a regulator of IFN-gamma signaling by modulating SOCS1 function through a phosphorylation-dependent interaction.

Human iPSC derived alveolar macrophages reveal macrophage subtype specific functions of itaconate in M. tuberculosis host defense

This study investigates itaconate's role in human macrophages, showing distinct effects in alveolar-like and M-CSF-derived macrophages during M. tuberculosis infection.

Genetic adaptation to pathogens and increased risk of inflammatory disorders in post-Neolithic Europe

This study uses ancient genomics to show that genetic adaptation to pathogens in post-Neolithic Europe increased inflammatory disease risk through antagonistic pleiotropy.

Genome-wide association study of resistance to Mycobacterium tuberculosis infection identifies a locus at 10q26.2 in three distinct populations

Negative selection on human genes causing severe inborn errors depends on disease outcome and both the mode and mechanism of inheritance

The paper develops CoNeS to assess negative selection on genes causing severe inborn errors, finding that disease outcome and inheritance mode/mechanism influence selection strength.

Identification of Discriminative Gene-level and Protein-level Features Associated with Gain-of-Function and Loss-of-Function Mutations

The paper identifies gene- and protein-level features distinguishing gain-of-function and loss-of-function mutations using NLP and machine learning on a new database of pathogenic mutations.

Multi-batch cytometry data integration for optimal immunophenotyping

The paper introduces iMUBAC, a framework for integrating multi-batch cytometry data to identify cell types and detect immunophenotype abnormalities across datasets.