A Human Dectin-2 Deficiency Associated With Invasive Aspergillosis.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 33733279.
- Also identified by DOI 10.1093/infdis/jiab145 and PMC identifier 8514184.
- Licence recorded as CC BY.
- The licence permits redistribution, so the abstract is shown in full and the full text is available from the publisher.
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.
Medical subject headings
- Aspergillosis
- Aspergillus fumigatus
- Invasive Fungal Infections
- Lectins, C-Type
- Sequence Deletion