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J Clin Immunol ; 38(7): 794-803, 2018 10.
Artigo em Inglês | MEDLINE | ID: mdl-30264381

RESUMO

PURPOSE: CARD9 deficiency is an inborn error of immunity that predisposes otherwise healthy humans to mucocutaneous and invasive fungal infections, mostly caused by Candida, but also by dermatophytes, Aspergillus, and other fungi. Phaeohyphomycosis are an emerging group of fungal infections caused by dematiaceous fungi (phaeohyphomycetes) and are being increasingly identified in patients with CARD9 deficiency. The Corynespora genus belongs to phaeohyphomycetes and only one adult patient with CARD9 deficiency has been reported to suffer from invasive disease caused by C. cassiicola. We identified a Colombian child with an early-onset, deep, and destructive mucocutaneous infection due to C. cassiicola and we searched for mutations in CARD9. METHODS: We reviewed the medical records and immunological findings in the patient. Microbiologic tests and biopsies were performed. Whole-exome sequencing (WES) was made and Sanger sequencing was used to confirm the CARD9 mutations in the patient and her family. Finally, CARD9 protein expression was evaluated in peripheral blood mononuclear cells (PBMC) by western blotting. RESULTS: The patient was affected by a large, indurated, foul-smelling, and verrucous ulcerated lesion on the left side of the face with extensive necrosis and crusting, due to a C. cassiicola infectious disease. WES led to the identification of compound heterozygous mutations in the patient consisting of the previously reported p.Q289* nonsense (c.865C > T, exon 6) mutation, and a novel deletion (c.23_29del; p.Asp8Alafs10*) leading to a frameshift and a premature stop codon in exon 2. CARD9 protein expression was absent in peripheral blood mononuclear cells from the patient. CONCLUSION: We describe here compound heterozygous loss-of-expression mutations in CARD9 leading to severe deep and destructive mucocutaneous phaeohyphomycosis due to C. cassiicola in a Colombian child.


Assuntos
Ascomicetos , Proteínas Adaptadoras de Sinalização CARD/genética , Predisposição Genética para Doença , Heterozigoto , Infecções Fúngicas Invasivas , Mutação , Feoifomicose/epidemiologia , Feoifomicose/etiologia , Fatores Etários , Idade de Início , Ascomicetos/genética , Ascomicetos/imunologia , Biomarcadores , Pré-Escolar , Colômbia/epidemiologia , Biologia Computacional/métodos , Análise Mutacional de DNA , Feminino , Humanos , Imuno-Histoquímica , Imunofenotipagem , Imageamento por Ressonância Magnética , Linhagem , Feoifomicose/diagnóstico , Feoifomicose/imunologia , Fenótipo , Tomografia Computadorizada por Raios X , Sequenciamento do Exoma
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