Our study establishes that obtaining detailed histories is vital for understanding the immune state and that patients with recurrent or chronic phaeohyphomycosis in the absence of known immunodeficiencies should be tested for CARD9 mutations.
Phaeohyphomycosis are an emerging group of fungal infections caused by dematiaceous fungi (phaeohyphomycetes) and are being increasingly identified in patients with CARD9 deficiency.
This work clarifies the association between inherited CARD9 deficiencies and phaeohyphomycosis, and furthers current knowledge on the spectrum and pathophysiology of diseases resulting from CARD9 deficiencies.