Since the first description of inherited CARD9 deficiency in 2009, nearly 100 patients with biallelic germline
#CARD9 mutations have been reported.
doi.org/10.1172/jci.insight.…
Here, Erika Della Mina
@ErikaDellaMina1 & team
@GarvanInstitute report on a patient with severe
#FungalInfections carrying a novel homozygous nonsense CARD9 variant (c.673A>T/p.K225*) that results in a truncated protein unable to mediate innate immunity, CD4 T cell intrinsic IL-17 immunity, and Candida-specific T-cell response.
The figure: Identification of a novel homozygous nonsense K225*/K225* variant in CARD9 in a single patient with recurrent fungal infections.