The monogenic landscape of human infectious diseases.

Boisson-Dupuis, Stéphanie; Bastard, Paul; Béziat, Vivien; Bustamante, Jacinta; Cobat, Aurélie; Jouanguy, Emmanuelle; Puel, Anne; Rosain, Jérémie et al. · J Allergy Clin Immunol · 2025

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Abstract

The spectrum of known monogenic inborn errors of immunity is growing, with certain disorders underlying a specific and narrow range of infectious diseases. These disorders reveal the core mechanisms by which these infections occur in various settings, including inherited and acquired immunodeficiencies, thereby delineating the essential mechanisms of protective immunity to the corresponding pathogens. These findings also have medical implications, facilitating diagnosis and improving the management of individuals at risk of disease.

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