The DOI matches its Crossref record; 5 of the 5 references it cites were found in a registry or an index.
Severe influenza pneumonitis in children with inherited TLR3 deficiency
Open accessAbstract
Autosomal recessive IRF7 and IRF9 deficiencies impair type I and III IFN immunity and underlie severe influenza pneumonitis. We report three unrelated children with influenza A virus (IAV) infection manifesting as acute respiratory distress syndrome (IAV-ARDS), heterozygous for rare TLR3 variants (P554S in two patients and P680L in the third) causing autosomal dominant (AD) TLR3 deficiency. AD TLR3 deficiency can underlie herpes simplex virus-1 (HSV-1) encephalitis (HSE) by impairing cortical neuron-intrinsic type I IFN immunity to HSV-1. TLR3-mutated leukocytes produce normal levels of IFNs in response to IAV. In contrast, TLR3-mutated fibroblasts produce lower levels of IFN-β and -λ, and display enhanced viral susceptibility, upon IAV infection. Moreover, the patients’ iPSC-derived pulmonary epithelial cells (PECs) are susceptible to IAV. Treatment with IFN-α2b or IFN-λ1 rescues this phenotype. AD TLR3 deficiency may thus underlie IAV-ARDS by impairing TLR3-dependent, type I and/or III IFN–mediated, PEC-intrinsic immunity. Its clinical penetrance is incomplete for both IAV-ARDS and HSE, consistent with their typically sporadic nature.
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Cites
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Cited by
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19
Zhang, Q., Bastard, P., Liu, Z., Le Pen, J., Moncada-Velez, M., Chen, J., Ogishi, M., Sabli, I. K. D., Hodeib, S., Korol, C., et al. (2020) · Science · doi:10.1126/science.abd4570 · Cited by 2,229
Self-citationDecoding Toll-like receptors: Recent insights and perspectives in innate immunity
Kawai, T., Ikegawa, M., Ori, D., & Akira, S. (2024) · Immunity · doi:10.1016/j.immuni.2024.03.004 · Cited by 528
The Cellular and Physiological Basis for Lung Repair and Regeneration: Past, Present, and Future
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Self-citationX-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19
Asano, T., Boisson, B., Onodi, F., Matuozzo, D., Moncada-Velez, M., Maglorius Renkilaraj, M. R. L., Zhang, P., Meertens, L., Bolze, A., Materna, M., et al. (2021) · Science Immunology · doi:10.1126/sciimmunol.abl4348 · Cited by 403
Self-citationPharmacological modulation of nucleic acid sensors - therapeutic potential and persisting obstacles
Vanpouille-Box, C., Hoffmann, J. A., & Galluzzi, L. (2019) · Nature Reviews Drug Discovery · doi:10.1038/s41573-019-0043-2 · Cited by 183
Metadata
- Authors
- Lim, H. K., Huang, S. X. L., Chen, J., Kerner, G., Gilliaux, O., Bastard, P., Dobbs, K., Hernandez, N., Goudin, N., Hasek, M. L., García Reino, E. J., Lafaille, F. G., Lorenzo, L., Luthra, P., Kochetkov, T., Bigio, B., Boucherit, S., Rozenberg, F., Vedrinne, C., Keller, M. D., Itan, Y., García-Sastre, A., Celard, M., Orange, J. S., Ciancanelli, M. J., Meyts, I., Zhang, Q., Abel, L., Notarangelo, L. D., Snoeck, H.-W., Casanova, J.-L., & Zhang, S.-Y.
- Venue
- Journal of Experimental Medicine
- Publisher
- Rockefeller University Press
- Published
- 2019-06-19
- Volume
- 216
- Issue
- 9
- Pages
- 2038-2056
- ISSN
- 0022-1007 (ISSN-L)
- 1540-9538
- OpenAlex
- W2951088327
- Cited by
- 194
- References
- 5
- FWCI
- 8.57
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- The paper
- Lim, H. K., Huang, S. X. L., Chen, J., Kerner, G., Gilliaux, O., Bastard, P., Dobbs, K., Hernandez, N., Goudin, N., Hasek, M. L., García Reino, E. J., Lafaille, F. G., Lorenzo, L., Luthra, P., Kochetkov, T., Bigio, B., Boucherit, S., Rozenberg, F., Vedrinne, C., . . . Zhang, S.-Y. (2019). Severe influenza pneumonitis in children with inherited TLR3 deficiency. Journal of Experimental Medicine. https://doi.org/10.1084/jem.20181621
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