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Review
. 2025 Mar;155(3):768-783.
doi: 10.1016/j.jaci.2024.12.1078. Epub 2024 Dec 24.

The monogenic landscape of human infectious diseases

Stéphanie Boisson-Dupuis  1 , Paul Bastard  2 , Vivien Béziat  1 , Jacinta Bustamante  3 , Aurélie Cobat  1 , Emmanuelle Jouanguy  1 , Anne Puel  1 , Jérémie Rosain  3 , Qian Zhang  1 , Shen-Ying Zhang  1 , Bertrand Boisson  4
Affiliations
Review

The monogenic landscape of human infectious diseases

Stéphanie Boisson-Dupuis et al. J Allergy Clin Immunol. 2025 Mar.

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.

Keywords: Mendelian and monogenic infections; inborn errors of immunity; infections; protection against common pathogens.

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Conflict of interest statement

Disclosure statement Supported in part by the St Giles Foundation; Rockefeller University; Institut National de la Santé et de la Recherche Médicale (INSERM); the Imagine Institute; Paris Cité University; the National Center for Research Resources; the National Center for Advancing Sciences of the National Institutes of Health (UL1TR001866, R01AI088364, R01AI095983, R01AI127564, R01AI143810, R01AI163029, R01NS072381, R21AI151663, R21AI159728, U19AI162568); American Heart Association (23IPA1051306); American Lung Association (COVID-1026207); Lupus Research Alliance, Global Team Science Award; Stavros Niarchos Foundation (SNF) as part of its grant to the SNF Institute for Global Infectious Disease Research at the Rockefeller University; the Elizabeth Hall Janeway Award from the Kellen Women’s Entrepreneurship Fund; the Square Foundation, Grandir–Fonds de solidarité pour l’enfance; the Fondation du Souffle; the SCOR Corporate Foundation for Science; Battersea and Bowery Advisory Group; the French National Research Agency (ANR) under the “Investments for the Future” program (ANR-10-IAHU-01); the Integrative Biology of Emerging Infectious Diseases Laboratory of Excellence (ANR-10-LABX-62-IBEID); ANR CARMIL2 (ANR-21-CE15-0034); ANR GENVIR (ANR-20-CE93-003); ANR KREM-AIF (ANR-21-CE17-0014); ANR AAILC (ANR-21-LIBA-0002); ANR GenMIS-C (ANR-21-COVR-0039); ANR AI2D (ANR-22-CE15-0046); ANR MAFMACRO (ANR-22-CE92-0008); ANR GENFLU (ANR-22-CE92-0004); ANR AIDIRAK (ANR-23-CE15-0011); ANR PTCRA (ANR-24-CE15-5334); ANR KDGenImmu (ANR-24-CE-1236); ANR ILC_BY _DESIGN (ANR-24-CE-15-5475); the ANR-RHU COVIFERON program (ANR-21-RHUS-08); the ANRS project ECTZ170784-ANRS0073; the HORIZON-HLTH-2021-DISEASE-04 program under grant agreement 101057100 (UNDINE); the European Union’s Horizon 2020 research and innovation program under grant agreement 824110 (EASI-genomics); the French Foundation for Medical Research (EQU201903007798); the ARC Fondation (ARCAGEING2022040004944); ITMO Cancer of Aviesan and INCa within the framework of the 2021-30 Cancer Control Strategy (funds administered by Institut National de la Santé et de la Recherche Médicale); W. E. Ford, General Atlantic’s chairman and chief executive officer; G. Caillaux, General Atlantic’s copresident, managing director, and head of business of the European Medicines Evaluation Agency and the General Atlantic Foundation; the French Ministry of Higher Education, Research, and Innovation (MESRI-COVID-19); and REACTing-INSERM. P.B. was supported by the MD-PhD program of the Imagine Institute (with support from the Bettencourt-Schueller Foundation), a “Poste CCA-INSERM-Bettencourt” award (with support from the Bettencourt-Schueller Foundation), and the FRM (EA20170638020). Disclosure of potential conflict of interest: The authors declare that they have no relevant conflicts of interest.

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