ArticleThe Journal of infectious diseases2015
Inherited CARD9 deficiency in 2 unrelated patients with invasive Exophiala infection.
Article in The Journal of infectious diseases, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 79 papers, 3 of them syntheses that pooled it.
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Who cites it
79 citing papers in PubMed, 3 syntheses or guidelines pooled it, 140 citations in OpenAlex.
- Clinical Perspective on Exophiala dermatitidis, A Systematic Review of Cases Reported Globally over 36 Years.Mycopathologia · 2026Pooled it
- Clinical features of patients with fungal infections caused by CARD9 deficiency: a literature review of case reports.Frontiers in cellular and infection microbiology · 2025Pooled it
- A fatal neonatal case of fungemia due to Exophiala dermatitidis-case report and literature review.BMC pediatrics · 2022Pooled it
- Bronchobiliary fistula secondary to hepatic malignancy with Exophiala dermatitidis infection: a case report.BMC infectious diseases · 2026Article
- Inherited human CARD9 deficiency impairs lymphoid cell, but not fibroblast, IL-17-mediated immunity.JCI insight · 2026Article
- CARD9-dependent macrophage plasticity regulates effective fungal clearance.The Journal of clinical investigation · 2026Article
- Sequential Phialemoniopsis curvata and Botryosphaeria dothidea infections over three years in bilateral lower limbs of a rheumatoid arthritis patient: a case-based review.BMC infectious diseases · 2026Review
- A comprehensive review of neurotropic fungal infections: clinical manifestations and vaccines.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Review
- Human immunity to fungal infections.The Journal of experimental medicine · 2025Review
- Antifungal Susceptibility of Melanized Fungi Isolated from CARD9 Deficient Patients: Implications for Treatment of Refractory Infections.Mycopathologia · 2025Article
- Fungal primary and opportunistic pathogens: an ecological perspective.FEMS microbiology reviews · 2024Review
- What are the 100 most cited fungal genera?Studies in mycology · 2024Article
- Inherited CARD9 Deficiency Due to a Founder Effect in East Asia.Journal of clinical immunology · 2024Article
- Fatal dermatophytic pseudomycetoma in a patient with non-HIV CD4 lymphocytopenia.Emerging microbes & infections · 2023Article
- Genetic inhibition of CARD9 accelerates the development of atherosclerosis in mice through CD36 dependent-defective autophagy.Nature communications · 2023Article
- Of Mycelium and Men: Inherent Human Susceptibility to Fungal Diseases.Pathogens (Basel, Switzerland) · 2023Review
- New insights into immunity to skin fungi shape our understanding of health and disease.Parasite immunology · 2023Review
- Mouse Models of Phaeohyphomycosis.Methods in molecular biology (Clifton, N.J.) · 2023Article
- Osteoarticular Mycoses.Clinical microbiology reviews · 2022Review
- Exophiala dermatitidis Central Line-Associated Bloodstream Infection in a Child with Ewing's Sarcoma: Case Report and Literature Review on Paediatric Infections.Mycopathologia · 2022Review
19 more citing papers are in PubMed but not listed here.
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Authors and funding
29 authors at 14 institutions in 4 countries.
Funding
Abstract
backgroundExophiala species are mostly responsible for skin infections. Invasive Exophiala dermatitidis disease is a rare and frequently fatal infection, with 42 cases reported. About half of these cases had no known risk factors. Similarly, invasive Exophiala spinifera disease is extremely rare, with only 3 cases reported, all in patients with no known immunodeficiency. Autosomal recessive CARD9 deficiency has recently been reported in otherwise healthy patients with severe fungal diseases caused by Candida species, dermatophytes, or Phialophora verrucosa.
methodsWe investigated an 8-year-old girl from a nonconsanguineous Angolan kindred, who was born in France and developed disseminated E. dermatitidis disease and a 26 year-old woman from an Iranian consaguineous kindred, who was living in Iran and developed disseminated E. spinifera disease. Both patients were otherwise healthy.
resultsWe sequenced CARD9 and found both patients to be homozygous for loss-of-function mutations (R18W and E323del). The first patient had segmental uniparental disomy of chromosome 9, carrying 2 copies of the maternal CARD9 mutated allele.
conclusionsThese are the first 2 patients with inherited CARD9 deficiency and invasive Exophiala disease to be described. CARD9 deficiency should thus be considered in patients with unexplained invasive Exophiala species disease, even in the absence of other infections.
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