Early-Onset Invasive Infection Due to Corynespora cassiicola Associated with Compound Heterozygous CARD9 Mutations in a Colombian Patient [documento electrónico] / Andrea Victoria Restrepo Gouzy, ; Mónica Rosa Trujillo Honeysberg, ; Lina Vanessa Gómez Gómez, ; Verónica Molina Vélez, ; Delsy Yurledy del Río Cobaleda, ; Ana Cristina Ruiz Suárez, ; Carlos Guillermo Garcés Samudio,  . - 2018.
Obra : Journal of Clinical Immunology

Idioma : Inglés antiguo (ca.1100-1500) (enm)

Palabras clave :	Phaeohyphomycosis  corynespora cassiicola  compound heterozygous mutations  CARD9  invasive fungal disease  primary immunodeficiency  inborn errors of immunity
Resumen :	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.
Mención de responsabilidad :	Carlos A Arango-Franco, Marcela Moncada-Vélez, Claudia Patricia Beltrán, Indira Berrío, Cristian Mogollón, Andrea Restrepo, Mónica Trujillo, Sara Daniela Osorio, Lorena Castro, Lina Vanessa Gómez, Ana María Muñoz, Verónica Molina, Delsy Yurledy Del Río Cobaleda, Ana Cristina Ruiz, Carlos Garcés, Juan Fernando Alzate, Felipe Cabarcas, Julio Cesar Orrego, Jean-Laurent Casanova, Jacinta Bustamante, Anne Puel, Andrés Augusto Arias, José Luis Franco
Referencia :	J Clin Immunol. 2018 Oct;38(7):794-803.
DOI (Digital Object Identifier) :	10.1007/s10875-018-0549-0
PMID :	30264381
En línea :	https://link.springer.com/article/10.1007%2Fs10875-018-0549-0
Enlace permanente :	https://hospitalpablotobon.cloudbiteca.com/pmb/opac_css/index.php?lvl=notice_display&id=4173