Puel et al. (2011) investigated a French child born to first-cousin parents of Moroccan descent who presented with Candida albicans dermatitis during the neonatal period and displayed Staphylococcus aureus dermatitis at 5 months of age. Known causes of ... Puel et al. (2011) investigated a French child born to first-cousin parents of Moroccan descent who presented with Candida albicans dermatitis during the neonatal period and displayed Staphylococcus aureus dermatitis at 5 months of age. Known causes of chronic mucocutaneous candidiasis (CMC) were excluded clinically and genetically and the lack of any phenotype other than CMC led to a diagnosis of autosomal recessive CMC disease (CMCD).
Puel et al. (2011) found that a French child of Moroccan descent with CMCD was homozygous for a nonsense mutation in the IL17RA gene (605461.0001). Consistent with autosomal recessive inheritance, parents and sibs were heterozygous for this mutation. ... Puel et al. (2011) found that a French child of Moroccan descent with CMCD was homozygous for a nonsense mutation in the IL17RA gene (605461.0001). Consistent with autosomal recessive inheritance, parents and sibs were heterozygous for this mutation. The mutation was not identified in 1,065 healthy controls. The IL17RA protein was not detected on the surface of fibroblasts, peripheral blood monocytes, or CD4+ T cells, CD8+ T cells, and monocytes from the patient. Investigation of the cells showed that the patient with CMCD displayed autosomal recessive complete IL17RA deficiency with a lack of cellular responses to at least 3 IL17 cytokine dimers, IL17A (603149), IL17F (606496), and IL17A-IL17F, in fibroblasts and leukocytes.