Lessons learned from the study of human inborn errors of innate immunity - 07/02/19
Abstract |
Innate immunity contributes to host defense through all cell types and relies on their shared germline genetic background, whereas adaptive immunity operates through only 3 main cell types, αβ T cells, γδ T cells, and B cells, and relies on their somatic genetic diversification of antigen-specific responses. Human inborn errors of innate immunity often underlie infectious diseases. The range and nature of infections depend on the mutated gene, the deleteriousness of the mutation, and other ill-defined factors. Most known inborn errors of innate immunity to infection disrupt the development or function of leukocytes other than T and B cells, but a growing number of inborn errors affect cells other than circulating and tissue leukocytes. Here we review inborn errors of innate immunity that have been recently discovered or clarified. We highlight the immunologic implications of these errors.
Le texte complet de cet article est disponible en PDF.Key words : Infection, inborn error of immunity, immunodeficiency, innate immunity, signaling pathway, Toll-like receptors, nuclear factor κ light-chain enhancer of activated B cells, interferon, phagocytes
Abbreviations used : AD, Aip1, APC, AR, BCL10, CARD, CBM complex, CLR, CMC, CMV, DBR1, DC, dsRNA, EBV-B, ELANE, ER, G-CSF, GINS1, GOF, gp130, HLH, HOIL-1, HOIP, HSCT, HSE, HSV-1, HRV, IAV, IFIH1, IFNAR, IFNGR, IκB, IKK, ILC, ILC3, IL-1R, IL-17R, IPD, IRAK, IRF, ISG, ISRE, JAGN1, JAK, LOF, LTA, LUBAC, MALT1, MAVS, MCM, MDA5, MDS, MECP2, MSMD, MyD88, NEMO, NF-κB, NIK, NK, pDC, PID, RIG-I, RLR, RORC, RORγT, RPSA, RSV, SAMD9, SAMD9L, SCID, SCN, SMARCD2, STAT, TBK1, TCR, TIRAP, TLR, TORCH, TRAF, TRIF, TYK2, USP18, VPS45, VZV, WDR1, XL
Plan
| G.B. is supported by the FWO Vlaanderen (project G0C8517N). L.M. is supported by the CSL Behring Chair in Primary Immunodeficiencies, the KID-FONDS charity of KU Leuven, and the Jeffrey Modell Foundation. B.B. is supported by the Boehringer Ingelheim Fonds PhD fellowship. X.B. is supported by Jeffrey Modell Foundation Translational Research Program, a grant from the KU Leuven (GOA/13/013), and an FWO Vlaanderen TBM grant. J.-L.C. is funded by the Rockefeller University, Institut National de la Santé et de la Recherche Médicale (INSERM), Paris Descartes University, National Institute of Allergy and Infectious Diseases (R01AI088364, R37AI095983, P01AI061093, R01AI127564, and U19AI111143), and the National Institute of Neurological Disorders and Stroke (R01NS072381). A.P. is funded by Integrative Biology of Emerging Infectious Diseases Laboratory of Excellence (ANR-10-LABX-62-IBEID), French National Research Agency (ANR) under the “Investments for the future” program (ANR-10-IAHU-01), ANR HGDIFD (ANR-14-CE15-0006-01) and eRARE EURO-CMC (ANR-14-RARE-0005-02), an AP-HP interface contract and Jeffrey Modell Foundation Translational Research Program. I.M. is supported by the Jeffrey Modell Foundation and the FWO Vlaanderen (project G0C8517N). |
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| Disclosure of potential conflict of interest: The authors declare that they have no relevant conflicts of interest. |
Vol 143 - N° 2
P. 507-527 - février 2019 Retour au numéro
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