Glocker EO, Hennigs A, Nabavi M et al.
N Engl J Med 2009;361:1727–35.
Primary chronic mucocutaneous candidiasis is associated with impaired clearance of fungal organisms. A mutation in the Card9 gene has been identified in mice with impaired antifungal immunity. In the present study, this mutation was identified in an Iranian family affected with the autosomal recessive disease. The homozygous mutation in the CARD9 gene results in a stop codon and a non-functional protein, resulting in reduced host immune response to
Candida albicans.
In chronic mucocutaneous candidiasis, there is ineffective clearance of fungal pathogens with subsequent colonization and establishment of infection. Primary chronic mucocutaneous candidiasis can be familial and is associated with endocrine and inflammatory disorders. Research in murine models has identified a deficiency in Card9, an intracellular adapter molecule, as being associated with impaired antifungal immunity [1]. The purpose of the present study was to investigate the genetic determinants of this disease in humans by testing for the CARD9 mutation in a large consanguineous Iranian family with chronic mucocutaneous candidiasis.