Abstract
Results The symptoms initiated with oral candidiasis at 3 years old, generalized afterwars and treated with oral and local therapy. At 11 years old well delimitated, descamative and pruriginosus skin lesions appeared; ketoconazol and itraconazole were maintained for 5 years. At 14 years old, the lesions were ulcerative, secretive and painful in the shoulders (15cm of diameter); terbinafine and posaconazole were used without result. His brother presents superficial dermatophytosis. A homozygous mutation in CARD9 exon 3(R101S) was identified in the patient. His parents, one brother (with superficial dermatophytosis) and one sister are heterozygous for this mutation. Laboratory evaluations showed eosinophilia and high IgE levels; Candida killing was clearly impaired in the patient.
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