ArticleJournal of clinical immunology2020
Inherited CARD9 Deficiency in a Patient with Both Exophiala spinifera and Aspergillus nomius Severe Infections.
Article in Journal of clinical immunology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 31 citations in OpenAlex.
- 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
- CARD9-dependent macrophage plasticity regulates effective fungal clearance.The Journal of clinical investigation · 2026Article
- Spectrum of clinically significant melanized fungi in NIH hospitalized patients and their antifungal susceptibility profiles.Medical mycology · 2025Article
- Human immunity to fungal infections.The Journal of experimental medicine · 2025Review
- Intracranial infections ofFrontiers in immunology · 2025Review
- Inherited CARD9 Deficiency Due to a Founder Effect in East Asia.Journal of clinical immunology · 2024Article
- CARD9 deficiency with allergic bronchopulmonary aspergillosis (ABPA)-like presentation: a case report.Oxford medical case reports · 2023Article
- The Molecular Identification and Antifungal Susceptibility of Clinical Isolates ofMicroorganisms · 2023Article
- A New Proposed Symbiotic Plant-Herbivore Relationship betweenMicroorganisms · 2023Article
- Of Mycelium and Men: Inherent Human Susceptibility to Fungal Diseases.Pathogens (Basel, Switzerland) · 2023Review
- Characteristics and Correlations of the Oral and Gut Fungal Microbiome with Hypertension.Microbiology spectrum · 2023Article
- Mouse Models of Phaeohyphomycosis.Methods in molecular biology (Clifton, N.J.) · 2023Article
- Invasive Rhinosinusitis Caused byJournal of fungi (Basel, Switzerland) · 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
- The Role of CARD9 Deficiency in Neutrophils.Mediators of inflammation · 2021Review
- CARD9 Deficiency in a Chinese Man with Cutaneous Mucormycosis, Recurrent Deep Dermatophytosis and a Review of the Literature.Mycopathologia · 2020Review
- Chronic Mucocutaneous Candidiasis in Early Life: Insights Into Immune Mechanisms and Novel Targeted Therapies.Frontiers in immunology · 2020Review
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Authors and funding
10 authors at 4 institutions in 3 countries.
Funding
Abstract
purposeCaspase-associated recruitment domain-9 (CARD9) deficiency is an inborn error of immunity that typically predisposes otherwise healthy patients to single fungal infections and the occurrence of multiple invasive fungal infections is rare. It has been described as the first known condition that predisposes to extrapulmonary Aspergillus infection with preserved lungs. We present a patient that expands the clinical variability of CARD9 deficiency. MATERIALS AND
methodsGenetic analysis was performed by Sanger sequencing. Neutrophils and mononuclear phagocyte response to fungal stimulation were evaluated through luminol-enhanced chemiluminescence and whole blood production of the proinflammatory mediator interleukin (IL)-6, respectively.
resultsWe report a 56-year-old Argentinean woman, whose invasive Exophiala spinifera infection at the age of 32 years was unexplained and reported in year 2004. At the age of 49 years, she presented with chronic pulmonary disease due to Aspergillus nomius. After partial improvement following treatment with caspofungin and posaconazole, right pulmonary bilobectomy was performed. Despite administration of multiple courses of antifungals, sustained clinical remission could not be achieved. We recently found that the patient's blood showed an impaired production of IL-6 when stimulated with zymosan. We also found that she is homozygous for a previously reported CARD9 loss-of-function mutation (Q289*).
conclusionsThis is the first report of a patient with inherited CARD9 deficiency and chronic invasive pulmonary aspergillosis (IPA) due to A. nomius. Inherited CARD9 deficiency should be considered in otherwise healthy children and adults with one or more invasive fungal diseases.
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