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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; Orr, Selinda J.
Affiliation
  • Griffiths JS; Division of Infection and Immunity and Systems Immunity Research Institute, Cardiff University School of Medicine, Cardiff, United Kingdom.
  • White PL; Centre for Host-Microbiome Interactions, Faculty of Dentistry, Oral and Craniofacial Sciences, King's College London, London, United Kingdom.
  • Czubala MA; Public Health Wales Microbiology Cardiff, University Hospital of Wales, Cardiff, United Kingdom.
  • Simonazzi E; Division of Infection and Immunity and Systems Immunity Research Institute, Cardiff University School of Medicine, Cardiff, United Kingdom.
  • Bruno M; Division of Infection and Immunity and Systems Immunity Research Institute, Cardiff University School of Medicine, Cardiff, United Kingdom.
  • Thompson A; United Kingdom Dementia Research Institute at Cardiff, Cardiff, United Kingdom.
  • Rizkallah PJ; Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Gurney M; Division of Infection and Immunity and Systems Immunity Research Institute, Cardiff University School of Medicine, Cardiff, United Kingdom.
  • da Fonseca DM; United Kingdom Dementia Research Institute at Cardiff, Cardiff, United Kingdom.
  • Naglik JR; Division of Infection and Immunity and Systems Immunity Research Institute, Cardiff University School of Medicine, Cardiff, United Kingdom.
  • Ingram W; Division of Infection and Immunity and Systems Immunity Research Institute, Cardiff University School of Medicine, Cardiff, United Kingdom.
  • Wilson K; Division of Infection and Immunity and Systems Immunity Research Institute, Cardiff University School of Medicine, Cardiff, United Kingdom.
  • van de Veerdonk FL; Centre for Host-Microbiome Interactions, Faculty of Dentistry, Oral and Craniofacial Sciences, King's College London, London, United Kingdom.
  • Barnes R; University Hospital of Wales, Cardiff, United Kingdom.
  • Taylor PR; Division of Infection and Immunity and Systems Immunity Research Institute, Cardiff University School of Medicine, Cardiff, United Kingdom.
  • Orr SJ; University Hospital of Wales, Cardiff, United Kingdom.
J Infect Dis ; 224(7): 1219-1224, 2021 10 13.
Article in En | MEDLINE | ID: mdl-33733279
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. 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.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Aspergillosis / Aspergillus fumigatus / Sequence Deletion / Lectins, C-Type / Invasive Fungal Infections Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: J Infect Dis Year: 2021 Document type: Article Affiliation country:

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Aspergillosis / Aspergillus fumigatus / Sequence Deletion / Lectins, C-Type / Invasive Fungal Infections Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: J Infect Dis Year: 2021 Document type: Article Affiliation country: