Griffiths, James S., White, P Lewis, Czubala, Magdalena A. ![]() ![]() ![]() ![]() ![]() |
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Official URL: http://dx.doi.org/10.1093/infdis/jiab145
Abstract
Immunocompromised patients are highly susceptible to invasive aspergillosis. Herein, we identified a homozygous deletion mutation (507 del C) resulting in a frameshift (N170I) and early stop codon in the fungal binding Dectin-2 receptor, in an immunocompromised patient. The mutated form of Dectin-2 was weakly expressed, did not form clusters at/near the cell surface and was functionally defective. PBMCs from this patient were unable to mount a cytokine (TNF, IL-6) response to A. fumigatus and this first identified Dectin-2-deficient patient succumbed to invasive aspergillosis.
Item Type: | Article |
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Date Type: | Publication |
Status: | Published |
Schools: | Medicine |
Additional Information: | This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) |
Publisher: | University of Chicago Press / Oxford University Press (OUP) |
ISSN: | 0022-1899 |
Date of First Compliant Deposit: | 24 March 2021 |
Date of Acceptance: | 11 January 2021 |
Last Modified: | 05 Jan 2024 06:21 |
URI: | https://orca.cardiff.ac.uk/id/eprint/140073 |
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