ArticleJournal of clinical immunology2021
Inherited CARD9 Deficiency in a Child with Invasive Disease Due to Exophiala dermatitidis and Two Older but Asymptomatic Siblings.
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 18 papers, 2 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
18 citing papers in PubMed, 2 syntheses or guidelines pooled it, 24 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
- Inherited human CARD9 deficiency impairs lymphoid cell, but not fibroblast, IL-17-mediated immunity.JCI insight · 2026Article
- Subcutaneous phaeohypomycosis clinically presenting as bursitis.GMS hygiene and infection control · 2026Article
- Incomplete penetrance in inborn errors of immunity: A skeleton in the closet-The sequel.Journal of human immunity · 2025Review
- Clinical and Molecular Advances on the Black YeastInternational journal of molecular sciences · 2025Review
- Human immunity to fungal infections.The Journal of experimental medicine · 2025Review
- Exploring novel protein biomarkers for early-stage diagnosis and prognosis of T-acute lymphoblastic leukemia (T-ALL).Hematology, transfusion and cell therapy · 2024Article
- 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
- Lymphadenitis caused byMedical mycology case reports · 2023Article
- Of Mycelium and Men: Inherent Human Susceptibility to Fungal Diseases.Pathogens (Basel, Switzerland) · 2023Review
- Nature and nurture: understanding phenotypic variation in inborn errors of immunity.Frontiers in cellular and infection microbiology · 2023Review
- Exophiala dermatitidis Central Line-Associated Bloodstream Infection in a Child with Ewing's Sarcoma: Case Report and Literature Review on Paediatric Infections.Mycopathologia · 2022Review
- Multidisciplinary management of disseminated Exophiala dermatitidis mycosis in an infant with mixed phenotype acute leukemia: a case report.BMC infectious diseases · 2022Article
- Invasive Rhinosinusitis Caused byJournal of fungi (Basel, Switzerland) · 2022Article
- CARD9 Signaling, Inflammation, and Diseases.Frontiers in immunology · 2022Review
- CARD9 in host immunity to fungal, bacterial, viral, and parasitic infections: An update.Frontiers in microbiology · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
19 authors at 7 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeAutosomal recessive CARD9 deficiency predisposes patients to invasive fungal disease. Candida and Trichophyton species are major causes of fungal disease in these patients. Other CARD9-deficient patients display invasive diseases caused by other fungi, such as Exophiala spp. The clinical penetrance of CARD9 deficiency regarding fungal disease is surprisingly not complete until adulthood, though the age remains unclear. Moreover, the immunological features of genetically confirmed yet asymptomatic individuals with CARD9 deficiency have not been reported.
methodsIdentification of CARD9 mutations by gene panel sequencing and characterization of the cellular phenotype by quantitative PCR, immunoblot, luciferase reporter, and cytometric bead array assays were performed.
resultsGene panel sequencing identified compound heterozygous CARD9 variants, c.1118G>C (p.R373P) and c.586A>G (p.K196E), in a 4-year-old patient with multiple cerebral lesions and systemic lymphadenopathy due to Exophiala dermatitidis. The p.R373P is a known disease-causing variant, whereas the p.K196E is a private variant. Although the patient's siblings, a 10-year-old brother and an 8-year-old sister, were also compound heterozygous, they have been asymptomatic to date. Normal CARD9 mRNA and protein expression were found in the patient's CD14
conclusionsCARD9 deficiency should be considered in previously healthy patients with invasive Exophiala dermatitidis disease. Asymptomatic relatives of all ages should be tested for CARD9 deficiency. Detecting cellular defects in asymptomatic individuals is useful for diagnosing CARD9 deficiency.
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