ArticleJournal of clinical immunology2018
Early-Onset Invasive Infection Due to Corynespora cassiicola Associated with Compound Heterozygous CARD9 Mutations in a Colombian Patient.
Article in Journal of clinical immunology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 37 citations in OpenAlex.
- Emerging ocular pathogen: multidrug-resistant Corynespora cassiicola in fungal keratitis: case series and literature review.International ophthalmology · 2025Review
- Diverse, novel mycoviruses coinfecting the phytopathogenic fungusFrontiers in cellular and infection microbiology · 2025Article
- The CARD9 Gene in Koalas (Journal of fungi (Basel, Switzerland) · 2024Article
- Inherited CARD9 Deficiency Due to a Founder Effect in East Asia.Journal of clinical immunology · 2024Article
- Phaeohyphomycosis caused byMycology · 2024Article
- Of Mycelium and Men: Inherent Human Susceptibility to Fungal Diseases.Pathogens (Basel, Switzerland) · 2023Review
- Case report: A case of ocular infection caused byFrontiers in cellular and infection microbiology · 2023Article
- Mouse Models of Phaeohyphomycosis.Methods in molecular biology (Clifton, N.J.) · 2023Article
- Human Dectin-1 deficiency impairs macrophage-mediated defense against phaeohyphomycosis.The Journal of clinical investigation · 2022Article
- Invasive Rhinosinusitis Caused byJournal of fungi (Basel, Switzerland) · 2022Article
- PulmonaryWorld journal of clinical cases · 2022Article
- CARD9 Expression Pattern, Gene Dosage, and Immunodeficiency Phenotype Revisited.Journal of clinical immunology · 2022Article
- CARD9 Signaling, Inflammation, and Diseases.Frontiers in immunology · 2022Review
- Inherited CARD9 Deficiency in a Child with Invasive Disease Due to Exophiala dermatitidis and Two Older but Asymptomatic Siblings.Journal of clinical immunology · 2021Article
- Primary Cutaneous Aspergillosis in a Patient with CARD9 Deficiency and Aspergillus Susceptibility of Card9 Knockout Mice.Journal of clinical immunology · 2021Article
- Clinical and Immunological Features of Human BCL10 Deficiency.Frontiers in immunology · 2021Article
- CARD9 Deficiency in a Chinese Man with Cutaneous Mucormycosis, Recurrent Deep Dermatophytosis and a Review of the Literature.Mycopathologia · 2020Review
- USP15 Deubiquitinates CARD9 to Downregulate C-Type Lectin Receptor-Mediated Signaling.ImmunoHorizons · 2020Article
- Inherited CARD9 Deficiency in a Patient with Both Exophiala spinifera and Aspergillus nomius Severe Infections.Journal of clinical immunology · 2020Article
- Human BCL10 Deficiency due to Homozygosity for a Rare Allele.Journal of clinical immunology · 2020Article
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Authors and funding
23 authors at 6 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeCARD9 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.
methodsWe 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.
resultsThe 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.
conclusionWe 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.
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