A human Dectin-2 deficiency associated with invasive aspergillosis

Griffiths, James S., White, P Lewis, Czubala, Magdalena A. ORCID: https://orcid.org/0000-0001-9881-1095, Simonazzi, Elena, Bruno, Mariolina, Thompson, Aiysha, Rizkallah, Pierre J. ORCID: https://orcid.org/0000-0002-9290-0369, Gurney, Mark ORCID: https://orcid.org/0000-0003-1119-6638, da Fonseca, Diogo M., Naglik, Julian R., Ingram, Wendy, Wilson, Keith, van de Veerdonk, Frank L., Barnes, Rosemary, Taylor, Philip R. ORCID: https://orcid.org/0000-0003-0163-1421 and Orr, Selinda J. 2021. A human Dectin-2 deficiency associated with invasive aspergillosis. Journal of Infectious Diseases 224 (7) , pp. 1219-1224. 10.1093/infdis/jiab145

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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
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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