ArticleThe Journal of allergy and clinical immunology2015
Inherited CARD9 deficiency in otherwise healthy children and adults with Candida species-induced meningoencephalitis, colitis, or both.
Article in The Journal of allergy and clinical immunology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 105 papers, 2 of them syntheses that pooled it.
What it found
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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.
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Who cites it
105 citing papers in PubMed, 2 syntheses or guidelines pooled it, 215 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
- Innate immunity: current understandings and future perspectives.Signal transduction and targeted therapy · 2026Review
- Fungal Infections in Disorders of Inborn Errors of Immunity.Clinical reviews in allergy & immunology · 2026Review
- Inherited human CARD9 deficiency impairs lymphoid cell, but not fibroblast, IL-17-mediated immunity.JCI insight · 2026Article
- CARD9 Mutations in Patients with Invasive Fungal Infections.Mycopathologia · 2025Article
- Cytosolic receptors and signaling in antifungal immunity.The EMBO journal · 2025Review
- Eosinophil CD48 interactions with Candida albicans Als6 is protective in vitro and in mouse systemic candidiasis.Nature communications · 2025Article
- Spectrum of clinically significant melanized fungi in NIH hospitalized patients and their antifungal susceptibility profiles.Medical mycology · 2025Article
- A CARD9 deficiency mouse model recapitulates human chronic CNS candidiasis identifying defective monocytic cell responses in immunopathogenesis.JCI insight · 2025Article
- Invasive fungal infections in patients with liver disease: immunological and clinical considerations for the intensive care unit.Intensive care medicine · 2025Review
- Intracranial infections ofFrontiers in immunology · 2025Review
- Exploring novel protein biomarkers for early-stage diagnosis and prognosis of T-acute lymphoblastic leukemia (T-ALL).Hematology, transfusion and cell therapy · 2024Article
- What are the 100 most cited fungal genera?Studies in mycology · 2024Article
- Review
- 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
- Increased susceptibility to Mycobacterium avium complex infection in miniature Schnauzer dogs caused by a codon deletion in CARD9.Scientific reports · 2024Article
- Dissecting the respective roles of microbiota and host genetics in the susceptibility of Card9Microbiome · 2024Article
- Phaeohyphomycosis caused byMycology · 2024Article
45 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
37 authors at 20 institutions in 8 countries.
Funding
Abstract
backgroundInvasive infections of the central nervous system (CNS) or digestive tract caused by commensal fungi of the genus Candida are rare and life-threatening. The known risk factors include acquired and inherited immunodeficiencies, with patients often displaying a history of multiple infections. Cases of meningoencephalitis, colitis, or both caused by Candida species remain unexplained.
objectiveWe studied 5 previously healthy children and adults with unexplained invasive disease of the CNS, digestive tract, or both caused by Candida species. The patients were aged 39, 7, 17, 37, and 26 years at the time of infection and were unrelated, but each was born to consanguineous parents of Turkish (2 patients), Iranian, Moroccan, or Pakistani origin. Meningoencephalitis was reported in 3 patients, meningoencephalitis associated with colitis was reported in a fourth patient, and the fifth patient had colitis only.
methodsInherited caspase recruitment domain family, member 9 (CARD9) deficiency was recently reported in otherwise healthy patients with other forms of severe disease caused by Candida, Trichophyton, Phialophora, and Exophiala species, including meningoencephalitis but not colitis caused by Candida and Exophiala species. Therefore we sequenced CARD9 in the 5 patients.
resultsAll patients were found to be homozygous for rare and deleterious mutant CARD9 alleles: R70W and Q289* for the 3 patients with Candida albicans-induced meningoencephalitis, R35Q for the patient with meningoencephalitis and colitis caused by Candida glabrata, and Q295* for the patient with Candida albicans-induced colitis. Regardless of their levels of mutant CARD9 protein, the patients' monocyte-derived dendritic cells responded poorly to CARD9-dependent fungal agonists (curdlan, heat-killed C albicans, Saccharomyces cerevisiae, and Exophiala dermatitidis).
conclusionInvasive infections of the CNS or digestive tract caused by Candida species in previously healthy children and even adults might be caused by inherited CARD9 deficiency.
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