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A Human Dectin-2 Deficiency Associated With Invasive Aspergillosis
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...
| Autores principales: | , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8514184/ https://www.ncbi.nlm.nih.gov/pubmed/33733279 http://dx.doi.org/10.1093/infdis/jiab145 |
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| author | 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 Orr, Selinda J |
| author_facet | 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 Orr, Selinda J |
| author_sort | Griffiths, James S |
| collection | PubMed |
| description | 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. Peripheral blood mononuclear cells from this patient were unable to mount a cytokine (tumor necrosis factor, interleukin 6) response to Aspergillus fumigatus, and this first identified Dectin-2–deficient patient died of complications of invasive aspergillosis. |
| format | Online Article Text |
| id | pubmed-8514184 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2021 |
| publisher | Oxford University Press |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-85141842021-10-14 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 Orr, Selinda J J Infect Dis Major Articles and Brief Reports 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. Peripheral blood mononuclear cells from this patient were unable to mount a cytokine (tumor necrosis factor, interleukin 6) response to Aspergillus fumigatus, and this first identified Dectin-2–deficient patient died of complications of invasive aspergillosis. Oxford University Press 2021-03-18 /pmc/articles/PMC8514184/ /pubmed/33733279 http://dx.doi.org/10.1093/infdis/jiab145 Text en © The Author(s) 2021. Published by Oxford University Press for the Infectious Diseases Society of America. https://creativecommons.org/licenses/by/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited. |
| spellingShingle | Major Articles and Brief Reports 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 Orr, Selinda J A Human Dectin-2 Deficiency Associated With Invasive Aspergillosis |
| title | A Human Dectin-2 Deficiency Associated With Invasive Aspergillosis |
| title_full | A Human Dectin-2 Deficiency Associated With Invasive Aspergillosis |
| title_fullStr | A Human Dectin-2 Deficiency Associated With Invasive Aspergillosis |
| title_full_unstemmed | A Human Dectin-2 Deficiency Associated With Invasive Aspergillosis |
| title_short | A Human Dectin-2 Deficiency Associated With Invasive Aspergillosis |
| title_sort | human dectin-2 deficiency associated with invasive aspergillosis |
| topic | Major Articles and Brief Reports |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8514184/ https://www.ncbi.nlm.nih.gov/pubmed/33733279 http://dx.doi.org/10.1093/infdis/jiab145 |
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