A Human Dectin-2 Deficiency Associated With Invasive Aspergillosis

J Infect Dis. 2021 Oct 13;224(7):1219-1224. doi: 10.1093/infdis/jiab145.

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.

Keywords: Aspergillus; Candida; CLR; Dectin-2; fungal immunology; host–pathogen interactions; inflammation; innate immunity.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Antifungal Agents / therapeutic use
  • Aspergillosis / diagnosis*
  • Aspergillosis / drug therapy
  • Aspergillus fumigatus / isolation & purification*
  • Fatal Outcome
  • Host-Pathogen Interactions
  • Humans
  • Immunocompromised Host
  • Invasive Fungal Infections* / diagnosis
  • Invasive Fungal Infections* / drug therapy
  • Lectins, C-Type / genetics*
  • Sequence Deletion / genetics*

Substances

  • Antifungal Agents
  • CLEC6A protein, human
  • Lectins, C-Type