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A Homozygous CARD9 Mutation in a Family with Susceptibility to Fungal Infections
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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 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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CD127 expression inversely correlates with FoxP3 and suppressive function of human CD4+ T reg cells
Liu, W., Putnam, A. L., Xu-yu, Z., Szot, G. L., Lee, M. R., Zhu, S., Gottlieb, P. A., Kapranov, P., Gingeras, T. R., de St. Groth, B. F., et al. (2006) · The Journal of Experimental Medicine · doi:10.1084/jem.20060772 · Cited by 2,606
Strategies for multilocus linkage analysis in humans.
Lathrop, M. G., Lalouel, J.-M., Julier, C., & Ott, J. (1984) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.81.11.3443 · Cited by 2,560
Collaborative Induction of Inflammatory Responses by Dectin-1 and Toll-like Receptor 2
Gantner, B. N., Simmons, R. M., Canavera, S. J., Akira, S., & Underhill, D. M. (2003) · The Journal of Experimental Medicine · doi:10.1084/jem.20021787 · Cited by 1,682
Seddiki, N., Santner-Nanan, B., Martinson, J., Zaunders, J., Sasson, S., Landay, A., Solomon, M., Selby, W., Alexander, S. I., Nanan, R., et al. (2006) · The Journal of Experimental Medicine · doi:10.1084/jem.20060468 · Cited by 1,512
Positional cloning of the APECED gene
Nagamine, K., Peterson, P., Scott, H. S., Kudoh, J., Minoshima, S., Heino, M., Krohn, K. J. E., Lalioti, M. D., Mullis, P. E., Antonarakis, S. E., et al. (1997) · Nature Genetics · doi:10.1038/ng1297-393 · Cited by 1,439
Faster sequential genetic linkage computations.
Cottingham, R. W., Idury, R. M., & Schäffer, A. A. (1993) · Europe PMC (PubMed Central) · Cited by 1,364
Self-citationSTAT3 Mutations in the Hyper-IgE Syndrome
Holland, S. M., DeLeo, F. R., Elloumi, H. Z., Hsu, A. P., Uzel, G., Brodsky, N. N., Freeman, A. F., Demidowich, A. P., Davis, J., Turner, M. L. C., et al. (2007) · New England Journal of Medicine · doi:10.1056/nejmoa073687 · Cited by 1,233
Self-citationAaltonen, J., Björses, P., Perheentupa, J., Horelli‐Kuitunen, N., Palotie, A. V., Peltonen, L., Lee, Y. S., Francis, F., Henning, S., Thiel, C. S., et al. (1997) · Nature Genetics · doi:10.1038/ng1297-399 · Cited by 1,214
LeibundGut-Landmann, S., Groß, O., Robinson, M. J., Osorio, F., Slack, E. C., Tsoni, S. V., Schweighoffer, E., Tybulewicz, V., Brown, G. D., Ruland, J., et al. (2007) · Nature Immunology · doi:10.1038/ni1460 · Cited by 1,191
Self-citationDectin-1 is required for β-glucan recognition and control of fungal infection
Taylor, P. R., Tsoni, S. V., Willment, J. A., Dennehy, K. M., Rosas, M., Findon, H., Haynes, K., Steele, C. H., Botto, M., Gordon, S., et al. (2006) · Nature Immunology · doi:10.1038/ni1408 · Cited by 1,185
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Research works printed but not linked: 2
- Thorpe ES, 1929, Am J Dis Child, 38, 328
- Cottingham RW, 1993, Am J Hum Genet, 53, 252
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Toll-like receptors and their crosstalk with other innate receptors in infection and immunity
Kawai, T., & Akira, S. (2011) · Immunity · doi:10.1016/j.immuni.2011.05.006 · Cited by 3,658
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Zhang, Q., Lenardo, M. J., & Baltimore, D. (2017) · Cell · doi:10.1016/j.cell.2016.12.012 · Cited by 1,979
Romani, L. (2011) · Nature Reviews Immunology · doi:10.1038/nri2939 · Cited by 1,793
Pappas, P. G., Lionakis, M. S., Arendrup, M. C., Ostrosky-Zeichner, L., & Kullberg, B. J. (2018) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2018.26 · Cited by 1,636
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Mócsai, A., Ruland, J., & Tybulewicz, V. L. J. (2010) · Nature Reviews Immunology · doi:10.1038/nri2765 · Cited by 1,368
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Iliev, I. D., Funari, V. A., Taylor, K. D., Nguyen, Q., Reyes, C. N., Strom, S. P., Brown, J., Becker, C. A., Fleshner, P. R., Dubinsky, M., et al. (2012) · Science · doi:10.1126/science.1221789 · Cited by 1,073
Chronic Mucocutaneous Candidiasis in Humans with Inborn Errors of Interleukin-17 Immunity
Puel, A., Cypowyj, S., Bustamante, J., Wright, J. F., Liu, L., Lim, H. K., Migaud, M., Israel, L., Chrabieh, M., Audry, M., et al. (2011) · Science · doi:10.1126/science.1200439 · Cited by 1,056
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Saijo, S., Ikeda, S., Yamabe, K., Kakuta, S., Ishigame, H., Akitsu, A., Fujikado, N., Kusaka, T., Kubo, S., Chung, S.-H., et al. (2010) · Immunity · doi:10.1016/j.immuni.2010.05.001 · Cited by 760
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Gringhuis, S. I., Kaptein, T. M., Wevers, B. A., Theelen, B., van der Vlist, M., Boekhout, T., & Geijtenbeek, T. B. H. (2012) · Nature Immunology · doi:10.1038/ni.2222 · Cited by 628
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Hernández‐Santos, N., Huppler, A. R., Peterson, A. C., Khader, S. A., McKenna, K. C., & Gaffen, S. L. (2012) · Mucosal Immunology · doi:10.1038/mi.2012.128 · Cited by 197
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Ling, Y., Cypowyj, S., Aytekin, C., Galicchio, M., Çamcıoğlu, Y., Nepesov, S., İkincioğulları, A., Doğu, F., Belkadi, A., Lévy, R., et al. (2015) · The Journal of Experimental Medicine · doi:10.1084/jem.20141065 · Cited by 192
LeibundGut‐Landmann, S., Wüthrich, M., & Hohl, T. M. (2012) · Current Opinion in Immunology · doi:10.1016/j.coi.2012.04.007 · Cited by 190
IL ‐17: overview and role in oral immunity and microbiome
Abusleme, L., & Moutsopoulos, N. M. (2016) · Oral Diseases · doi:10.1111/odi.12598 · Cited by 189
Gazendam, R. P., van Hamme, J. L., Tool, A. T. J., van Houdt, M., Verkuijlen, P., Herbst, M., Liese, J. G., van de Veerdonk, F. L., Roos, D., van den Berg, T. K., et al. (2014) · Blood · doi:10.1182/blood-2014-01-551473 · Cited by 187
Innate Recognition of Fungal Cell Walls
Levitz, S. M. (2010) · PLoS Pathogens · doi:10.1371/journal.ppat.1000758 · Cited by 187
Candida albicans, plasticity and pathogenesis
Poulain, D. (2013) · Critical Reviews in Microbiology · doi:10.3109/1040841x.2013.813904 · Cited by 188
Chronic mucocutaneous candidiasis disease associated with inborn errors of IL‐17 immunity
Okada, S., Puel, A., Casanova, J., & Kobayashi, M. (2016) · Clinical & Translational Immunology · doi:10.1038/cti.2016.71 · Cited by 179
Protective and Pathological Immunity during Central Nervous System Infections
Klein, R. S., & Hunter, C. A. (2017) · Immunity · doi:10.1016/j.immuni.2017.06.012 · Cited by 179
Selective C-Rel Activation via Malt1 Controls Anti-Fungal TH-17 Immunity by Dectin-1 and Dectin-2
Gringhuis, S. I., Wevers, B. A., Kaptein, T. M., van Capel, T. M. M., Theelen, B., Boekhout, T., de Jong, E. C., & Geijtenbeek, T. B. H. (2011) · PLoS Pathogens · doi:10.1371/journal.ppat.1001259 · Cited by 179
Candida albicans and Candida glabrata : global priority pathogens
Katsipoulaki, M., Stappers, M. H. T., Malavia-Jones, D., Brunke, S., Hube, B., & Gow, N. A. R. (2024) · Microbiology and Molecular Biology Reviews · doi:10.1128/mmbr.00021-23 · Cited by 180
Gavino, C., Cotter, A., Lichtenstein, D. A., Lejtenyi, D., Fortin, C., Legault, C., Alirezaie, N., Majewski, J., Sheppard, D. C., Behr, M. A., et al. (2014) · Clinical Infectious Diseases · doi:10.1093/cid/ciu215 · Cited by 172
Extrapulmonary Aspergillus infection in patients with CARD9 deficiency
Rieber, N., Gazendam, R. P., Freeman, A. F., Hsu, A. P., Collar, A. L., Sugui, J. A., Drummond, R. A., Rongkavilit, C., Hoffman, K., Henderson, C., et al. (2016) · JCI Insight · doi:10.1172/jci.insight.89890 · Cited by 171
Corvilain, E., Casanova, J., & Puel, A. (2018) · Journal of Clinical Immunology · doi:10.1007/s10875-018-0539-2 · Cited by 174
Syk-coupled C-type lectins in immunity
Kerrigan, A. M., & Brown, G. D. (2011) · Trends in Immunology · doi:10.1016/j.it.2011.01.002 · Cited by 170
Schimke, L. F., Sawalle‐Belohradsky, J., Roesler, J., Wollenberg, A., Rack, A., Borte, M., Rieber, N. P., Cremer, R., Maaß, E., Dopfer, R. E., et al. (2010) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2010.06.029 · Cited by 171
Immunity to infection in IL ‐17‐deficient mice and humans
Cypowyj, S., Pïcard, C., Maródi, L., Casanova, J., & Puel, A. (2012) · European Journal of Immunology · doi:10.1002/eji.201242605 · Cited by 169
Microbiota-Immune Interaction in the Pathogenesis of Gut-Derived Infection
Wang, C., Li, Q., & Ren, J. (2019) · Frontiers in Immunology · doi:10.3389/fimmu.2019.01873 · Cited by 172
Sokol, H., Conway, K. L., Zhang, M., Choi, M., Morin, B., Cao, Z., Villablanca, E. J., Li, C., Wijmenga, C., Yun, S. H., et al. (2013) · Gastroenterology · doi:10.1053/j.gastro.2013.05.047 · Cited by 170
Burbelo, P. D., Browne, S., Sampaio, E. P., Giaccone, G., Zaman, R. A., Kristosturyan, E., Rajan, A., Ding, L., Ching, K. H., Berman, A., et al. (2010) · Blood · doi:10.1182/blood-2010-05-286161 · Cited by 162
Memory CD4 T cells: generation, reactivation and re‐assignment
MacLeod, M. K. L., Kappler, J. W., & Marrack, P. (2010) · Immunology · doi:10.1111/j.1365-2567.2010.03260.x · Cited by 170
Pulmonary Nontuberculous Mycobacterial Infection. A Multisystem, Multigenic Disease
Szymanski, E. P., Leung, J. M., Fowler, C., Haney, C., Hsu, A. P., Chen, F., Duggal, P., Oler, A. J., McCormack, R., Podack, E. R., et al. (2015) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.201502-0387oc · Cited by 159
Rivera, A., Hohl, T. M., Collins, N., Leiner, I. M., Gallegos, A. M., Saijo, S., Coward, J., Iwakura, Y., & Pamer, E. G. (2011) · The Journal of Experimental Medicine · doi:10.1084/jem.20100906 · Cited by 157
Host responses to Candida albicans: Th17 cells and mucosal candidiasis
Conti, H. R., & Gaffen, S. L. (2010) · Microbes and Infection · doi:10.1016/j.micinf.2010.03.013 · Cited by 163
Candida albicans Infection of Caenorhabditis elegans Induces Antifungal Immune Defenses
Pukkila-Worley, R., Ausubel, F. M., & Mylonakis, E. E. (2011) · PLoS Pathogens · doi:10.1371/journal.ppat.1002074 · Cited by 154
Skin Immunity to Candida albicans
Kashem, S. W., & Kaplan, D. H. (2016) · Trends in Immunology · doi:10.1016/j.it.2016.04.007 · Cited by 152
Metadata
- 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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