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

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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.
Original languageEnglish
JournalThe Journal of Infectious Diseases
Early online date18 Mar 2021
DOIs
Publication statusEarly online date - 18 Mar 2021

Keywords

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

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