A Homozygous CARD9 Mutation in a Family with Susceptibility to Fungal Infections
Open accessAbstract
BACKGROUND: Chronic mucocutaneous candidiasis may be manifested as a primary immunodeficiency characterized by persistent or recurrent infections of the mucosa or the skin with candida species. Most cases are sporadic, but both autosomal dominant inheritance and autosomal recessive inheritance have been described. METHODS: We performed genetic studies in 36 members of a large, consanguineous five-generation family, in which 4 members had recurrent fungal infections and an additional 3 members died during adolescence, 2 after invasive infection of the brain with candida species. All 36 family members were enrolled in the study, and 22 had blood samples taken for DNA analysis. Homozygosity mapping was used to locate the mutated gene. In the 4 affected family members (patients) and the 18 unaffected members we sequenced CARD9, the gene encoding the caspase recruitment domain-containing protein 9, carried out T-cell phenotyping, and performed functional studies, with the use of either leukocytes from the patients or a reconstituted murine model of the genetic defect. RESULTS: We found linkage (lod score, 3.6) to a genomic interval on chromosome 9q, including CARD9. All four patients had a homozygous point mutation in CARD9, resulting in a premature termination codon (Q295X). Healthy family members had wild-type expression of the CARD9 protein; the four patients lacked wild-type expression, which was associated with low numbers of Th17 cells (helper T cells producing interleukin-17). Functional studies based on genetic reconstitution of myeloid cells from Card9(-/-) mice showed that the Q295X mutation impairs innate signaling from the antifungal pattern-recognition receptor dectin-1. CONCLUSIONS: An autosomal recessive form of susceptibility to chronic mucocutaneous candidiasis is associated with homozygous mutations in CARD9.
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Defects in the CARD9 pathway predispose to chronic mucocutaneous candidiasis and disseminated aspergillosis.
“Defects in the CARD9 pathway have been found predisposing to chronic mucocutaneous candidiasis [28] and disseminated aspergillosis [29]”
From Race and ethnicity: Risk factors for fungal infections? (2023) · cites this paper as [28]
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- Authors
- Glocker, E.-O., Hennigs, A., Nabavi, M., Schäffer, A. A., Woellner, C., Salzer, U., Pfeifer, D., Veelken, H., Warnatz, K., Tahami, F., Jamal, S., Manguiat, A., Rezaei, N., Amirzargar, A. A., Plebani, A., Hannesschläger, N., Gross, O., Ruland, J., & Grimbacher, B.
- Affiliations
- University of London (GB)
- Semnan University of Medical Sciences (IR)
- National Institutes of Health (US)
- University Medical Center Freiburg (DE)
- Children's Medical Center (US)
- Tehran University of Medical Sciences (IR)
- Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia (IT)
- TUM Klinikum (DE)
- ORCID
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2009-10-29
- Volume
- 361
- Issue
- 18
- Pages
- 1727-1735
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- PMC
- PMC2793117
- OpenAlex
- W2164500783
- Cited by
- 800
- References
- 58
- Citations by year
- 2026: 24 · 2025: 23 · 2024: 28 · 2023: 37 · 2022: 41 · 2021: 43 · 2020: 48 · 2019: 45 · 2018: 51 · 2017: 53 · 2016: 50 · 2015: 63 · 2014: 59 · 2013: 44 · 2012: 56
- FWCI
- 27.31
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- New England Journal of Medicine (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- UCL Discovery (University College London) (submittedVersion)
- mediaTUM – the media and publications repository of the Technical University Munich (Technical University Munich) (submittedVersion)
- Funders
- National Institutes of Health (Z99 LM999999)
- U.S. National Library of Medicine (ZIALM000097)
- Topics
- Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
- Health Sciences › Medicine › Infectious Diseases › Antifungal resistance and susceptibility
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Inflammasome and immune disorders
- Keywords
- CARD9, chronic mucocutaneous candidiasis, fungal infection susceptibility, primary immunodeficiency, homozygous mutation, autosomal recessive inheritance, consanguineous family, Th17 cells, Dectin-1
- MeSH terms
- Adolescent, Animals, Candida, Candidiasis, Candidiasis, Chronic Mucocutaneous, Consanguinity, DNA Mutational Analysis, Female, Genes, Recessive, Homozygote, Humans, Lod Score, Male, Middle Aged, Pedigree, RNA, Messenger, T-Lymphocytes, Signal Transduction, Meningitis, Fungal, Mice, Knockout, Codon, Nonsense, Genetic Predisposition to Disease, Mice, CARD Signaling Adaptor Proteins, Young Adult
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