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A human Dectin-2 deficiency associated with invasive aspergillosis

Griffiths, James S., White, P Lewis, Czubala, Magdalena A., Simonazzi, Elena, Bruno, Mariolina, Thompson, Aiysha, Rizkallah, Pierre J., Gurney, Mark, da Fonseca, Diogo M., Naglik, Julian R., Ingram, Wendy, Wilson, Keith, van de Veerdonk, Frank L., Barnes, Rosemary, Taylor, Philip R. 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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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 (
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: 29 Jun 2022 06:23

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