ArticleJournal of clinical immunology2021
Primary Cutaneous Aspergillosis in a Patient with CARD9 Deficiency and Aspergillus Susceptibility of Card9 Knockout Mice.
Article in Journal of clinical immunology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 citations in OpenAlex.
- Pooled it
- CARD9-dependent macrophage plasticity regulates effective fungal clearance.The Journal of clinical investigation · 2026Article
- Human immunity to fungal infections.The Journal of experimental medicine · 2025Review
- Phialophora americana infection in a patient with a compound heterozygous CARD9 mutation.BMC infectious diseases · 2025Article
- Antifungal Susceptibility of Melanized Fungi Isolated from CARD9 Deficient Patients: Implications for Treatment of Refractory Infections.Mycopathologia · 2025Article
- Intracranial infections ofFrontiers in immunology · 2025Review
- Innate immune signal transduction pathways to fungal infection: Components and regulation.Cell insight · 2024Review
- Inherited CARD9 Deficiency Due to a Founder Effect in East Asia.Journal of clinical immunology · 2024Article
- Role of CARD9 in Cell- and Organ-Specific Immune Responses in Various Infections.International journal of molecular sciences · 2024Review
- CARD9 deficiency with allergic bronchopulmonary aspergillosis (ABPA)-like presentation: a case report.Oxford medical case reports · 2023Article
- Of Mycelium and Men: Inherent Human Susceptibility to Fungal Diseases.Pathogens (Basel, Switzerland) · 2023Review
- Inborn Errors of Immunity Causing Pediatric Susceptibility to Fungal Diseases.Journal of fungi (Basel, Switzerland) · 2023Review
- Genetic Susceptibility to Fungal Infections.Advanced biomedical research · 2023Review
- Primary Cutaneous Aspergillosis Due toInfection and drug resistance · 2023Article
- The role of the CBM complex in allergic inflammation and disease.The Journal of allergy and clinical immunology · 2022Review
- A Fun-Guide to Innate Immune Responses to Fungal Infections.Journal of fungi (Basel, Switzerland) · 2022Review
- CARD9 deficiency predisposing chromoblastomycosis: A case report and comparative transcriptome study.Frontiers in immunology · 2022Article
- CARD9 in host immunity to fungal, bacterial, viral, and parasitic infections: An update.Frontiers in microbiology · 2022Review
- Ten decadal advances in fungal biology leading towards human well-being.Fungal diversity · 2022Review
- CARD9 Signaling, Inflammation, and Diseases.Frontiers in immunology · 2022Review
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeWe describe a case of primary cutaneous aspergillosis caused by Aspergillus fumigatus, and elucidate the underlying genetic and immunological mechanisms. MATERIALS AND
methodsRoutine clinical and laboratory investigations were performed. Whole-exome sequencing of the patient's DNA suggested the presence of a CARD9 mutation, which was confirmed by Sanger sequencing. Innate and adaptive immunological responses of patient-derived CARD9-deficient cells were evaluated with ELISA and flow cytometry. Cutaneous and pulmonary aspergillosis models were established in Card9 knockout (KO) mice, which were compared with wild-type and immunosuppressed mice, to explore the pathogenesis and Aspergillus susceptibility.
resultsA 45-year-old man presented with a 37-year history of skin lesions on his face. A diagnosis of primary cutaneous aspergillosis was made through histopathology, immunohistochemistry, and tissue culture. Sanger sequencing of CARD9 showed a homozygous frame-shift mutation (c.819_820insG, p.D274fsX60), which led to the lack of CARD9 expression. Peripheral blood mononuclear cells from the patient showed selective impairment of proinflammatory cytokines, and Th1-, Th17-, and Th22-associated responses upon fungus-specific stimulation. The cutaneous aspergillosis model established in Card9 KO mice presented with persistent infection, with fungal germs and short hyphae in tissue, consistent with the patient's lesions. Skin lesions in immunosuppressed mice were more severe, and led to death. Unlike our patient, Card9 KO mice were relatively susceptible to pulmonary aspergillosis, with reasons to be investigated.
conclusionsThis is, to our knowledge, the first report that links cutaneous aspergillosis to CARD9 mutation. This work enriches both the phenotypic spectrum of CARD9 deficiencies and the genetic background of cutaneous aspergillosis.
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