A Human Dectin-2 Deficiency Associated With Invasive Aspergillosis.
James S GriffithsP Lewis WhiteMagdalena A CzubalaElena SimonazziMariolina BrunoAiysha ThompsonPierre J RizkallahMark GurneyDiogo M da FonsecaJulian R NaglikWendy IngramKeith WilsonFrank L van de VeerdonkRosemary BarnesPhilip R TaylorSelinda J OrrPublished in: The Journal of infectious diseases (2022)
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.