Patients with the mutations R18W, R35Q, R70W, G72S or Y91H in the CARD domain, and the nonsense mutation Q295X in the coiled-coil domain, seemed to be more prone to Candida infections (90% vs. 20%, P < 0·005) and central nervous system infections (60% vs. 12%, P < 0·005).
The presence of the homozygous (HMZ) p.Q295X (c.883C > T) and HMZ p.Q289X (c.865C > T) mutations were associated with an elevated risk of candidiasis (OR: 1.6; 95% CI: 1.18-2.15; <i>p</i> = 0.004) and dermatophytosis (OR: 1.85; 95% CI: 1.47-2.37; <i>p</i> < 0.001), respectively.
The presence of the homozygous (HMZ) p.Q295X (c.883C > T) and HMZ p.Q289X (c.865C > T) mutations were associated with an elevated risk of candidiasis (OR: 1.6; 95% CI: 1.18-2.15; <i>p</i> = 0.004) and dermatophytosis (OR: 1.85; 95% CI: 1.47-2.37; <i>p</i> < 0.001), respectively.