A Human Dectin-2 Deficiency Associated With Invasive Aspergillosis

James S Griffiths; P Lewis White; Magdalena A Czubala; Elena Simonazzi; Mariolina Bruno; Aiysha Thompson; Pierre J Rizkallah; Mark Gurney; Diogo M da Fonseca; Julian R Naglik; Wendy Ingram; Keith Wilson; Frank L van de Veerdonk; Rosemary Barnes; Philip R Taylor; Selinda J Orr

doi:10.1093/infdis/jiab145

A Human Dectin-2 Deficiency Associated With Invasive Aspergillosis

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

Wellcome Wolfson Institute for Experimental Medicine

Research output: Contribution to journal › Article › peer-review

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Abstract

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.

Original language	English
Journal	The Journal of Infectious Diseases
Early online date	18 Mar 2021
DOIs	https://doi.org/10.1093/infdis/jiab145
Publication status	Early online date - 18 Mar 2021

Keywords

Aspergillus
Candida
CLR
Dectin-2
Fungal Immunology
Host-Pathogen Interactions
Inflammation
Innate Immunity

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1093/infdis/jiab145Licence: CC BY

A Human Dectin-2 Deficiency Associated With Invasive Aspergillosis
Copyright 2021 the authors. This is an open access article published under a Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium, provided the author and source are cited.
Final published version, 376 KBLicence: CC BY

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Griffiths, J. S., White, P. L., Czubala, M. A., Simonazzi, E., Bruno, M., Thompson, A., Rizkallah, P. J., Gurney, M., da Fonseca, D. M., Naglik, J. R., Ingram, W., Wilson, K., van de Veerdonk, F. L., Barnes, R., Taylor, P. R., & Orr, S. J. (2021). A Human Dectin-2 Deficiency Associated With Invasive Aspergillosis. The Journal of Infectious Diseases. Advance online publication. https://doi.org/10.1093/infdis/jiab145

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abstract = "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.",

keywords = " Aspergillus , Candida , CLR, Dectin-2, Fungal Immunology, Host-Pathogen Interactions, Inflammation, Innate Immunity",

author = "Griffiths, {James S} and White, {P Lewis} and Czubala, {Magdalena A} and Elena Simonazzi and Mariolina Bruno and Aiysha Thompson and Rizkallah, {Pierre J} and Mark Gurney and {da Fonseca}, {Diogo M} and Naglik, {Julian R} and Wendy Ingram and Keith Wilson and {van de Veerdonk}, {Frank L} and Rosemary Barnes and Taylor, {Philip R} and Orr, {Selinda J}",

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AU - Griffiths, James S

AU - White, P Lewis

AU - Czubala, Magdalena A

AU - Simonazzi, Elena

AU - Bruno, Mariolina

AU - Thompson, Aiysha

AU - Rizkallah, Pierre J

AU - Gurney, Mark

AU - da Fonseca, Diogo M

AU - Naglik, Julian R

AU - Ingram, Wendy

AU - Wilson, Keith

AU - van de Veerdonk, Frank L

AU - Barnes, Rosemary

AU - Taylor, Philip R

AU - Orr, Selinda J

PY - 2021/3/18

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N2 - 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.

AB - 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.

KW - Aspergillus

KW - Candida

KW - CLR

KW - Dectin-2

KW - Fungal Immunology

KW - Host-Pathogen Interactions

KW - Inflammation

KW - Innate Immunity

U2 - 10.1093/infdis/jiab145

DO - 10.1093/infdis/jiab145

M3 - Article

C2 - 33733279

SN - 0022-1899

JO - The Journal of Infectious Diseases

JF - The Journal of Infectious Diseases

ER -

A Human Dectin-2 Deficiency Associated With Invasive Aspergillosis

Abstract

Keywords

UN SDGs

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