Cited by 800Immunodeficiency and Autoimmune DisordersAntifungal resistance and susceptibilityInflammasome and immune disorders

The DOI matches its Crossref record; 60 of the 60 references it cites were found in a registry or an index.

A Homozygous CARD9 Mutation in a Family with Susceptibility to Fungal Infections

Open access

Glocker, Erik-Oliver, Hennigs, Andre, Nabavi, Mohammad, Schäffer, Alejandro A., Woellner, Cristina, Salzer, Ulrich, Pfeifer, Dietmar, Veelken, Hendrik, Warnatz, Klaus, Tahami, Fariba, Jamal, Sarah, Manguiat, Annabelle, Rezaei, Nima, Amirzargar, Ali Akbar, Plebani, Alessandro, Hannesschläger, Nicole, Gross, Olaf, Ruland, Jürgen, Grimbacher, Bodo·2009·New England Journal of Medicine

DOI 10.1056/nejmoa0810719PMC PMC2793117

Open this paper in CoChat — free account Open PDF

Abstract

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.

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

Integrity signals

Registry

Crossref · 10.1056/nejmoa0810719

Cites

60 of 60 references verified0 citation errors · 0 not checkable

Statistics

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

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
Expression of interleukin (IL)-2 and IL-7 receptors discriminates between human regulatory and activated T cells
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-citation
STAT3 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-citation
An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains
Aaltonen, 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
Syk- and CARD9-dependent coupling of innate immunity to the induction of T helper cells that produce interleukin 17
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-citation
Dectin-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

Flagged first, then by citations

Show all 58 references

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

Sorted by citations

Items 501–600 of 799

AmpliSeq Screening of Genes Encoding the C-Type Lectin Receptors and Their Signaling Components Reveals a Common Variant in MASP1 Associated with Pulmonary Tuberculosis in an Indian Population
Klassert, T. E., Goyal, S., Stock, M., Driesch, D., Hussain, A., Berrocal-Almanza, L. C., Myakala, R., Sumanlatha, G., Valluri, V., Ahmed, N., et al. (2018) · Frontiers in Immunology · doi:10.3389/fimmu.2018.00242 · Cited by 13
Comparative Analysis of Clinical and Environmental Strains of Exophiala spinifera by Long-Reads Sequencing and RNAseq Reveal Adaptive Strategies
Song, Y., Du, M., da Silva, N. M., Yang, E., Vicente, V. A., de Hoog, S., & Li, R. (2020) · Frontiers in Microbiology · doi:10.3389/fmicb.2020.01880 · Cited by 13
The microbial and host factors that govern Candida gastrointestinal colonization and dissemination
Mishra, A. A., & Koh, A. Y. (2021) · Current Opinion in Microbiology · doi:10.1016/j.mib.2021.05.012 · Cited by 16
Signaling through Syk or CARD9 Mediates Species-Specific Anti-CandidaProtection in Bone Marrow Chimeric Mice
Zajta, E., Csonka, K., Tóth, A., Tiszlavicz, L., Németh, T., Orosz, A., Novák, Á., Csikós, M., Vágvölgyi, C., Mócsai, A., et al. (2021) · mBio · doi:10.1128/mbio.01608-21 · Cited by 16
Immunological Aspects ofCandidaandAspergillusSystemic Fungal Infections
Mueller-Loebnitz, C., Ostermann, H., Franzke, A., Loeffler, J., Uharek, L., Topp, M. S., & Einsele, H. (2013) · Interdisciplinary Perspectives on Infectious Diseases · doi:10.1155/2013/102934 · Cited by 14
A CARD9 Polymorphism Is Associated with Decreased Likelihood of Persistent Conjugated Hyperbilirubinemia in Intestinal Failure
Burghardt, K. M., Avinashi, V., Kosar, C., Xu, W., Wales, P. W., Avitzur, Y., & Muise, A. M. (2014) · PLoS ONE · doi:10.1371/journal.pone.0085915 · Cited by 13
A Case Report of Majocchi's Granuloma Associated with Combined Therapy of Topical Steroids and Adalimumab
Chou, W., & Hsu, C.-J. (2016) · Medicine · doi:10.1097/md.0000000000002245 · Cited by 13
The Role of AIRE in the Immunity Against Candida Albicans in a Model of Human Macrophages
de Albuquerque, J. A. T., Banerjee, P. P., Castoldi, Â., Ma, R., Zurro, N. B., Ynoue, L. H., Arslanian, C., Barbosa-Carvalho, M. U. W., Correia-Deur, J. E. D. M., Weiler, F. G., et al. (2018) · Frontiers in Immunology · doi:10.3389/fimmu.2018.00567 · Cited by 13
Gain-of-Function STAT1 Mutation With Familial Lymphadenopathy and Hodgkin Lymphoma
Henrickson, S. E., Dolan, J. G., Forbes, L. R., Vargas‐Hernández, A., Nishimura, S., Okada, S., Kersun, L. S., Brodeur, G. M., & Heimall, J. R. (2019) · Frontiers in Pediatrics · doi:10.3389/fped.2019.00160 · Cited by 13
Mitochondria-mediated ferroptosis induced by CARD9 ablation prevents MDSCs-dependent antifungal immunity
Zhang, Z., Li, P., Chen, Y., Chen, Y., Wang, X., Shen, S., Zhao, Y., Zhu, Y., & Wang, T. (2024) · Cell Communication and Signaling · doi:10.1186/s12964-024-01581-2 · Cited by 12
Candida Species
Edwards, J. E. (2015) · Elsevier eBooks · doi:10.1016/b978-1-4557-4801-3.00258-7 · Cited by 12
Dendritic cells in inborn errors of immunity
Gupta, S., & Agrawal, A. (2023) · Frontiers in Immunology · doi:10.3389/fimmu.2023.1080129 · Cited by 12
Defects of pattern recognition: primary immunodeficiencies of the innate immune system
Netea, M. G., van de Veerdonk, F. L., van Deuren, M., & van der Meer, J. W. M. (2011) · Current Opinion in Pharmacology · doi:10.1016/j.coph.2011.03.003 · Cited by 13
Human Invasive Mycoses: Immunogenetics on the Rise
Lionakis, M. S., & Holland, S. M. (2014) · The Journal of Infectious Diseases · doi:10.1093/infdis/jiu411 · Cited by 12
Dermatophytes: New taxonomy and differentiation methods. Review of current state of knowledge about mechanisms of pathogenesis and pathogen-host interaction
Dworecka-Kaszak, B., & Dąbrowska, I. (2017) · Medycyna Weterynaryjna · doi:10.21521/mw.5791 · Cited by 12
A 32-Year-Old Man With Ulcerative Mucositis, Skin Lesions, and Nail Dystrophy
Bader, O., Weig, M., Groß, U., Schön, M. P., Mempel, M., & Buhl, T. (2012) · Clinical Infectious Diseases · doi:10.1093/cid/cir943 · Cited by 12
ITAM Receptor Signaling and the NLRP3 Inflammasome in Antifungal Immunity
Poeck, H., & Ruland, J. (2010) · Journal of Clinical Immunology · doi:10.1007/s10875-010-9385-6 · Cited by 12
Self-citation
Assessment of Immune Responses to Fungal Infections: Identification and Characterization of Immune Cells in the Infected Tissue
Sparber, F., & LeibundGut‐Landmann, S. (2016) · Methods in molecular biology · doi:10.1007/978-1-4939-6515-1_8 · Cited by 12
Cell-Mediated Defense against Infection
Hohl, T. M. (2015) · Elsevier eBooks · doi:10.1016/b978-1-4557-4801-3.00006-0 · Cited by 15
Concurrent infection of Exophiala dermatitidis and Angiostrongylus cantonensis in central nervous system of a child with inherited CARD9 deficiency: A case report and literature review
Ma, N., Zhao, Y., Tang, M., Xia, H., Li, D., & Lu, G. (2023) · Journal de Mycologie Médicale · doi:10.1016/j.mycmed.2023.101455 · Cited by 11
Primary immunodeficiencies: a decade of shifting paradigms, the current status and the emergence of cutting-edge therapies and diagnostics
Ebadi, M., Aghamohammadi, A., & Rezaei, N. (2014) · Expert Review of Clinical Immunology · doi:10.1586/1744666x.2015.995096 · Cited by 12
Self-citation
When the Fight against Fungi Goes Wrong
Wang, X., & van de Veerdonk, F. L. (2016) · PLoS Pathogens · doi:10.1371/journal.ppat.1005400 · Cited by 11
Mucosal immune responses to fungi and the implications for inflammatory bowel disease
Limon, J. J., Kershaw, K. M., & Underhill, D. M. (2018) · Current Opinion in Gastroenterology · doi:10.1097/mog.0000000000000483 · Cited by 11
The Use of Host Biomarkers for the Management of Invasive Fungal Disease
Griffiths, J. S., Orr, S. J., Morton, C. O., Loeffler, J., & White, P. L. (2022) · Journal of Fungi · doi:10.3390/jof8121307 · Cited by 11
Exploiting antifungal immunity in the clinical context
Lionakis, M. S. (2023) · Seminars in Immunology · doi:10.1016/j.smim.2023.101752 · Cited by 12
Cytokine immunomodulation for the treatment of infectious diseases: lessons from primary immunodeficiencies
Vinh, D. C. (2014) · Expert Review of Clinical Immunology · doi:10.1586/1744666x.2014.919224 · Cited by 11
Can Controlling Endoplasmic Reticulum Dysfunction Treat Allergic Inflammation in Severe Asthma With Fungal Sensitization?
Jeong, J. S., Kim, S. R., & Lee, Y. C. (2018) · Allergy Asthma and Immunology Research · doi:10.4168/aair.2018.10.2.106 · Cited by 11
Functional analysis of two STAT1 gain-of-function mutations in two Iranian families with autosomal dominant chronic mucocutaneous candidiasis
Ostadi, V., Sherkat, R., Migaud, M., Modaressadeghi, S.-M., Casanova, J., Puel, A., Nekooie‐Marnany, N., & Ganjalıkhani-Hakemi, M. (2020) · Medical Mycology · doi:10.1093/mmy/myaa043 · Cited by 11
Picomolar zinc binding modulates formation of Bcl10-nucleating assemblies of the caspase recruitment domain (CARD) of CARD9
Holliday, M., Ferrao, R., Boenig, G. D. L., Estevez, A., Helgason, E., Rohou, A. L., Dueber, E. C., & Fairbrother, W. J. (2018) · Journal of Biological Chemistry · doi:10.1074/jbc.ra118.004821 · Cited by 11
Mononuclear Phagocyte System
Lavoie, P. M., & Levy, O. (2016) · Elsevier eBooks · doi:10.1016/b978-0-323-35214-7.00125-6 · Cited by 12
Inborn Errors of Immunity Causing Pediatric Susceptibility to Fungal Diseases
Olbrich, P., & Vinh, D. C. (2023) · Journal of Fungi · doi:10.3390/jof9020149 · Cited by 11
Immune and metabolic perturbations in COVID ‐19‐associated pulmonary mucormycosis: A transcriptome analysis of innate immune cells
Dhaliwal, M., Muthu, V., Sharma, A., Raj, K., Rudramurthy, S. M., Agarwal, R., Kaur, H., Rawat, A. K., Singh, S., & Chakrabarti, A. (2023) · Mycoses · doi:10.1111/myc.13679 · Cited by 10
Inherited CARD9 Deficiency Due to a Founder Effect in East Asia
Tomomasa, D., Lee, B. H., Hirata, Y., Inoue, Y., Majima, H., Imanaka, Y., Asano, T., Katakami, T., Lee, J., Hijikata, A., et al. (2024) · Journal of Clinical Immunology · doi:10.1007/s10875-024-01724-7 · Cited by 10
Genetic susceptibility to recurrent vulvovaginal candidiasis in an African population from Nairobi, Kenya
Omosa-Manyonyi, G., Ricaño-Ponce, I., Rosati, D., Bruno, M., Kamau, N. W., Obimbo, M., Jaeger, M., van der Ven, A. J. A. M., Netea, M. G., Kumar, V., et al. (2025) · Scientific Reports · doi:10.1038/s41598-025-95772-7 · Cited by 10
Treatment of candidiasis: insights from host genetics
Delsing, C. E., Bleeker‐Rovers, C. P., Kullberg, B. J., & Netea, M. G. (2012) · Expert Review of Anti-infective Therapy · doi:10.1586/eri.12.79 · Cited by 10
Monogenetic causes of fungal disease: recent developments
Zhang, Y., Li, R., & Wang, X. (2020) · Current Opinion in Microbiology · doi:10.1016/j.mib.2020.09.002 · Cited by 10
Inborn errors of immunity associated with elevated immunoglobulin E
Khan, Y. W., & Williams, K. W. (2022) · Annals of Allergy Asthma & Immunology · doi:10.1016/j.anai.2022.07.013 · Cited by 10
Of Mycelium and Men: Inherent Human Susceptibility to Fungal Diseases
Vinh, D. C. (2023) · Pathogens · doi:10.3390/pathogens12030456 · Cited by 11
Protective immune responses to fungal infections
Rivera, A. (2014) · Parasite Immunology · doi:10.1111/pim.12098 · Cited by 11
The CARD9 Polymorphisms rs4077515, rs10870077 and rs10781499 Are Uncoupled from Susceptibility to and Severity of Pulmonary Tuberculosis
Streață, I., Weiner, J. M., Iannaconne, M., McEwen, G. K., Ciontea, M. S., Olaru, M., Capparelli, R., Ioana, M. I., Kaufmann, S. H. E., & Dorhoi, A. (2016) · PLoS ONE · doi:10.1371/journal.pone.0163662 · Cited by 10
Fungal Infections
Hay, R. J., & Ashbee, H. R. (2016) · Wiley eBooks · doi:10.1002/9781118441213.rtd0033 · Cited by 11
Immunomodulatory mechanism of Bacillus subtilis R0179 in RAW 264.7 cells against Candida albicans challenge
Zhao, W., Wang, X., Zhao, C., & Yan, Z. (2021) · Microbial Pathogenesis · doi:10.1016/j.micpath.2021.104988 · Cited by 9
Human inborn errors of immunity underlying Talaromyces marneffei infections: a multicenter, retrospective cohort study
Fan, H., Yang, Z., Wu, Y., Lu, X., Li, T., Lu, X., Lu, G., He, L., Lü, G., & Huang, L. (2025) · Frontiers in Immunology · doi:10.3389/fimmu.2025.1492000 · Cited by 9
Toward a monogenic architecture of human infections: From 1996 to 2026
Casanova, J. (2026) · Journal of Human Immunity · doi:10.70962/jhi.20260027 · Cited by 9
Innate immune response of human periodontal ligament fibroblasts via the Dectin-1/Syk pathway
Inomata, M., Amano, S., ABE, M., Hayashi, T., & Sakagami, H. (2022) · Journal of Medical Microbiology · doi:10.1099/jmm.0.001627 · Cited by 10
Clinical characteristics of central nervous system candidiasis due to Candida albicans in children: a single-center experience
Xiao, H., Miao, Y.-Q., Liu, L., Feng, W., Liu, S., Guo, L., Guo, X., Chen, T., Hu, B., Hu, H., et al. (2022) · BMC Infectious Diseases · doi:10.1186/s12879-022-07924-z · Cited by 9
Asymptomatic Candida glabrata urinary tract infection in an immunocompetent young female: A case report
Deng, R., Meng, X., Li, R., Wang, A., & Song, Y. (2023) · Medicine · doi:10.1097/md.0000000000033798 · Cited by 9
Heterozygous CARD9 mutation favors the development of allergic bronchopulmonary aspergillosis
Xu, X., Lu, H., Li, J., Duan, J., Wang, Z., Yang, J., Gu, S., Luo, R.-G., Liang, S., Tang, W., et al. (2023) · Chinese Medical Journal · doi:10.1097/cm9.0000000000002786 · Cited by 9
Increased susceptibility to Mycobacterium avium complex infection in miniature Schnauzer dogs caused by a codon deletion in CARD9
Mizukami, K., Dorsey‐Oresto, A., Raj, K., Eringis, A., Furrow, E., Martin, E., Yamanaka, D., Kehl, A., Kolicheski, A., Jagannathan, V., et al. (2024) · Scientific Reports · doi:10.1038/s41598-024-61054-x · Cited by 9
Inborn errors of immunity and invasive fungal infections: presentation and management
Paccoud, O., Warris, A., Puel, A., & Lanternier, F. (2024) · Current Opinion in Infectious Diseases · doi:10.1097/qco.0000000000001062 · Cited by 9
Human immunity to fungal infections
Vinh, D. C. (2025) · The Journal of Experimental Medicine · doi:10.1084/jem.20241215 · Cited by 9
The molecular immunology of human susceptibility to fungal diseases: lessons from single gene defects of immunity
Vinh, D. C. (2019) · Expert Review of Clinical Immunology · doi:10.1080/1744666x.2019.1584038 · Cited by 10
CARD9: at the intersection of mucosal and systemic antifungal immunity
Lionakis, M. S., & Holland, S. M. (2013) · Blood · doi:10.1182/blood-2013-01-480434 · Cited by 9
Fungal immunology in clinical practice: Magical realism or practical reality?
Chang, C. C., & Levitz, S. M. (2019) · Medical Mycology · doi:10.1093/mmy/myy165 · Cited by 10
IL-17-mediated antifungal immunity restricts Candida albicans pathogenicity in the oral cavity
Fróis-Martins, R., Vicente, K. M. D. S., Maufrais, C., Mertens, S., Sertour, N., Sitterlé, E., Bougnoux, M., d’Enfert, C., & LeibundGut‐Landmann, S. (2025) · Nature Microbiology · doi:10.1038/s41564-025-02198-y · Cited by 8
IL-6-inducing Whole Yeast-based Immunotherapy Directly Controls IL-12-dependent CD8 T-cell Responses
Tamburini, B. A. J., Kedl, R. M., & Bellgrau, D. (2011) · Journal of Immunotherapy · doi:10.1097/cji.0b013e3182356888 · Cited by 8
Common Presentations and Diagnostic Approaches
Rezaei, N., de Vries, E., Gambineri, E., & Haddad, É. (2014) · Elsevier eBooks · doi:10.1016/b978-0-12-405546-9.00001-7 · Cited by 8
Self-citation
Immunologic Development and Susceptibility to Infection
Sue, P. K., Meir, M., & de la Morena, M. (2017) · Elsevier eBooks · doi:10.1016/b978-0-323-40181-4.00009-8 · Cited by 8
Fungal Vaccines and Immunotherapeutics: Current Concepts and Future Challenges
Carvalho, A., Duarte‐Oliveira, C., Gonçalves, S. M., Campos, A., de Lacerda, J. F., & Cunha, C. (2017) · Current Fungal Infection Reports · doi:10.1007/s12281-017-0272-y · Cited by 8
Recognition of Cryptococcus neoformans by Pattern Recognition Receptors and its Role in Host Defense to This Infection
Sato, K., & Kawakami, K. (2017) · Medical Mycology Journal · doi:10.3314/mmj.17.011 · Cited by 8
Severe Disseminated Phaeohyphomycosis in a Patient with Inherited CARD9 Deficiency
Vaezi, A., Mardani, M., Fakhim, H., Yaghoobi, M. H., Abtahian, Z., Nasri, E., Geramishoar, M., Khodavaisy, S., Meis, J. F. G. M., & Badali, H. (2018) · Archives of Clinical Infectious Diseases · doi:10.5812/archcid.84006 · Cited by 8
Regulation of IL-17A–Producing Cells in Skin Inflammatory Disorders
Pandiyan, P., & McCormick, T. S. (2021) · Journal of Investigative Dermatology · doi:10.1016/j.jid.2021.06.036 · Cited by 8
Host-directed immunotherapy to fight infectious diseases
Langelier, M. J., & Vinh, D. C. (2022) · Current Opinion in Pediatrics · doi:10.1097/mop.0000000000001176 · Cited by 9
RNA Sequencing and Gene Ontology Analysis in Acute Invasive Fungal Sinusitis
David, A. P., Loftus, P. A., Russell, M. S., Goldberg, A. N., El‐Sayed, I. H., Jan, T. A., & Roland, L. T. (2022) · American Journal of Rhinology and Allergy · doi:10.1177/19458924221134732 · Cited by 8
Genetic Control of Susceptibility to Candida albicans in SM/J Mice
Radovanovic, I., Leung, V., Iliescu, A., Bongfen, S. E., Mullick, A., Langlais, D., & Gros, P. (2014) · The Journal of Immunology · doi:10.4049/jimmunol.1400783 · Cited by 9
Variation in Genes of β-glucan Recognition Pathway and Susceptibility to Opportunistic Infections in HIV-Positive Patients
Rosentul, D. C., Plantinga, T. S., Papadopoulos, A., Joosten, L. A. B., Antoniadou, A., Venselaar, H., Kullberg, B. J., van der Meer, J. W. M., Giamarellos‐Bourboulis, E. J., & Netea, M. G. (2011) · Immunological Investigations · doi:10.3109/08820139.2011.599088 · Cited by 8
Host genetics affect microbial ecosystems via host immunity
Kafsi, H. E., Gorochov, G., & Larsen, M. (2016) · Current Opinion in Allergy and Clinical Immunology · doi:10.1097/aci.0000000000000302 · Cited by 8
Chronic Meningitis
Bennett, J. E. (2015) · Elsevier eBooks · doi:10.1016/b978-1-4557-4801-3.00090-4 · Cited by 8
CARD9 Deficiency Increases Hippocampal Injury Following Acute Neurotropic Picornavirus Infection but Does Not Affect Pathogen Elimination
Pavasutthipaisit, S., Stoff, M., Ebbecke, T., Ciurkiewicz, M., Mayer-Lambertz, S., Störk, T., Pavelko, K. D., Lepenies, B., & Beineke, A. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22136982 · Cited by 8
Emerging Infections and Pertinent Infections Related to Travel for Patients with Primary Immunodeficiencies
Sullivan, K. E., Bassiri, H., Bousfiha, A. A., Costa‐Carvalho, B. T., Freeman, A. F., Hagin, D., Lau, Y., Lionakis, M. S., Moreira, I., Pinto, J. A., et al. (2017) · Journal of Clinical Immunology · doi:10.1007/s10875-017-0426-2 · Cited by 9
Clinical features of patients with fungal infections caused by CARD9 deficiency: a literature review of case reports
Tang, C., Liu, Y., Long, J., & Lv, X. (2025) · Frontiers in Cellular and Infection Microbiology · doi:10.3389/fcimb.2025.1615929 · Cited by 7
Autoimmunity and Periodontitis
Costalonga, M., Thumbigere‐Math, V., & Herzberg, M. (2026) · Journal of Periodontal Research · doi:10.1111/jre.70058 · Cited by 7
The pathogenicity and future treatment strategies of Candida albicans
Wu, J., Jiang, C., Wang, H., Chen, T., Chen, X., & Da, W. (2026) · Frontiers in Cellular and Infection Microbiology · doi:10.3389/fcimb.2026.1752304 · Cited by 7
Clinical Syndromes: Candida and Candidosis
Ruhnke, M. (2018) · Springer eBooks · doi:10.1007/978-3-319-92300-0_4 · Cited by 7
Genetic Variation and Fungal Infection Risk: State of the Art
Lionakis, M. S. (2019) · Current Fungal Infection Reports · doi:10.1007/s12281-019-00362-6 · Cited by 7
Differential expression patterns of glycosphingolipids and C‐type lectin receptors on immune cells in absence of functional regulatory T cells
Jirmo, A. C., Rossdam, C., Grychtol, R. M., Happle, C., Gerardy‐Schahn, R., Buettner, F. F. R., & Hansen, G. (2020) · Immunity Inflammation and Disease · doi:10.1002/iid3.334 · Cited by 7
The important role of fungi in inflammatory bowel diseases
Wang, S., Zhang, Y., & Yu, Y. (2021) · Scandinavian Journal of Gastroenterology · doi:10.1080/00365521.2021.1963838 · Cited by 7
A Novel Strategy to Identify Haematology Patients at High Risk of Developing Aspergillosis
Griffiths, J. S., White, P. L., Thompson, A., da Fonseca, D. M., Pickering, R. J., Ingram, W. A., Wilson, K. M. O., Barnes, R. A., Taylor, P. R., & Orr, S. J. (2021) · Frontiers in Immunology · doi:10.3389/fimmu.2021.780160 · Cited by 8
Isolated Chronic Mucocutaneous Candidiasis due to a Novel Duplication Variant of IL17RC
Noma, K., Tsumura, M., Nguyen, T., Asano, T., Sakura, F., Tamaura, M., Imanaka, Y., Mizoguchi, Y., Karakawa, S., Hayakawa, S., et al. (2023) · Journal of Clinical Immunology · doi:10.1007/s10875-023-01601-9 · Cited by 7
Human–Fungal Pathogen Interactions from the Perspective of Immunoproteomics Analyses
Wangsanut, T., & Pongpom, M. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms25063531 · Cited by 7
More than just infections: an update on primary immune deficiencies
Savides, C., & Shaker, M. S. (2010) · Current Opinion in Pediatrics · doi:10.1097/mop.0b013e32833dd28b · Cited by 9
Polymorphisms of the immune-modulating receptor dectin-1 in pigs: their functional influence and distribution in pig populations
Shinkai, H., Toki, D., Okumura, N., Takenouchi, T., Kitani, H., & Uenishi, H. (2016) · Immunogenetics · doi:10.1007/s00251-016-0900-7 · Cited by 7
Mucocutaneous Candidiasis
Maródi, L. (2014) · Elsevier eBooks · doi:10.1016/b978-0-12-405546-9.00040-6 · Cited by 7
Invasive Fungal Infections as a Complication of New Therapies
Pechacek, J., & Lionakis, M. S. (2025) · Annual Review of Medicine · doi:10.1146/annurev-med-050124-122000 · Cited by 6
Disrupting the Dok3–Card9 Interaction with Synthetic Peptides Enhances Antifungal Effector Functions of Human Neutrophils
Loh, J. T., Teo, J. K. H., Kannan, S., Verma, C. S., Lim, H. H., & Lam, K. (2023) · Pharmaceutics · doi:10.3390/pharmaceutics15071780 · Cited by 6
A novel inherited CARD9 deficiency in an otherwise healthy woman with CNS candidiasis
Zhou, L., Qiu, W., Que, C., Cheng, J.-H., Zhu, R., Huang, J.-T., Jiang, Y., Zhao, H., Wang, X., Cheng, X., et al. (2024) · Clinical Immunology · doi:10.1016/j.clim.2024.110293 · Cited by 6
A novel mannan-specific chimeric antigen receptor M-CAR redirects T cells to interact with Candida spp. hyphae and Rhizopus oryzae spores
Guimarães, J. G., de Campos, G. Y., Machado, M. P., Brito, P. K. M. O., dos Reis, T. F., Goldman, G. H., Palma, P. V. B., Fraga‐Silva, T. F. D. C., Umbelino, D. C., Venturini, J., et al. (2025) · Bioengineered · doi:10.1080/21655979.2025.2458786 · Cited by 6
Fusarium solani Activates Dectin-1 in Experimentally Induced Keratomycosis
Xu, L., & Xie, L.-X. (2018) · Current Medical Science · doi:10.1007/s11596-018-1859-4 · Cited by 6
Understanding the genetic basis of immune responses to fungal infection
Gonçalves, S. M., Cunha, C., & Carvalho, A. (2022) · Expert Review of Anti-infective Therapy · doi:10.1080/14787210.2022.2063839 · Cited by 6
A family with interleukin-17 receptor A deficiency: a case report and review of the literature
Kılıç, M., Özcan, M. H., Taşkın, E., & Şen, A. (2023) · The Turkish Journal of Pediatrics · doi:10.24953/turkjped.2022.40 · Cited by 6
CARD9 mutations and T cell immune response in patients with chromoblastomycosis
Herman, T. S., de Azevedo, C. D. M. P. E. S., Bocca, A. L., Lima, B. J. F. D. S., Beato, C. P., Razzolini, E., Marques, S. G., Nunes, N., Lustosa, B. P. R., Santos, D. W. D. C. L., et al. (2024) · One health mycology. · doi:10.63049/ohm.24.11.3 · Cited by 6
Card9 Broadly Regulates Host Immunity against Experimental Pulmonary Cryptococcus neoformans 52D Infection
Angers, I., Akik, W., Beauchamp, A., King, I. L., Lands, L. C., & Qureshi, S. T. (2024) · Journal of Fungi · doi:10.3390/jof10060434 · Cited by 6
Low-Dose Amphotericin B and Murine Dialyzable Spleen Extracts Protect against SystemicCandidaInfection in Mice
Robledo-Avila, F. H., Pérez-Tapia, M., Limón-Flores, A. Y., Pavón, L., Hernández‐Pando, R., Wong‐Baeza, I., González-González, G., Tovar, C., Estrada-Parra, S. A., & Estrada-Garcı́a, I. (2013) · Clinical and Developmental Immunology · doi:10.1155/2013/194064 · Cited by 6
Host Immune Responses During Infections with Candida albicans
Stappers, M. H. T., & Brown, G. D. (2017) · Springer eBooks · doi:10.1007/978-3-319-50409-4_9 · Cited by 6
Primary Immunodeficiencies and Dermatophytosis
Rouzaud, C., Lanternier, F., & Puel, A. (2017) · Springer eBooks · doi:10.1007/978-3-319-50842-9_5 · Cited by 6
Impact of the Microbiome on the Human Genome
Jeyakumar, T., Beauchemin, N., & Gros, P. (2019) · Trends in Parasitology · doi:10.1016/j.pt.2019.07.015 · Cited by 6
Correction: The CARD9 Polymorphisms rs4077515, rs10870077 and rs10781499 Are Uncoupled from Susceptibility to and Severity of Pulmonary Tuberculosis
Streață, I., Weiner, J. M., Iannaccone, M., McEwen, G. K., Ciontea, M. S., Olaru, M., Capparelli, R., Ioana, M. I., Kaufmann, S. H. E., & Dorhoi, A. (2016) · PLoS ONE · doi:10.1371/journal.pone.0165853 · Cited by 6
Genome‐wide association study of dermatophytosis in the UK Biobank cohort
Lehrer, S. P., & Rheinstein, P. H. (2022) · Journal of the European Academy of Dermatology and Venereology · doi:10.1111/jdv.18413 · Cited by 6
Card9 deficiency exacerbates vulvovaginal candidiasis by impairing the IL-17 production and vaginal epithelial barrier
Liu, W., Song, Y., Wang, R., Wan, Z., Li, R., & Wang, X. (2025) · Medical Mycology · doi:10.1093/mmy/myaf026 · Cited by 5
Pearls & Oy-sters: Spinal Cord Candidiasis Linked to CARD9 Deficiency Masquerading as a Longitudinally Extensive Transverse Myelitis
Jeantin, L., Plu, I., Amador, M. D. M., Maillart, É., Lanternier, F., Pourcher, V., & Davy, V. (2022) · Neurology · doi:10.1212/wnl.0000000000200992 · Cited by 5

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: Glocker, Erik-Oliver
Nabavi, Mohammad
Schäffer, Alejandro A.
Salzer, Ulrich
Pfeifer, Dietmar
Veelken, Hendrik
Warnatz, Klaus
Rezaei, Nima
Amirzargar, Ali Akbar
Plebani, Alessandro
Gross, Olaf
Ruland, Jürgen
Grimbacher, Bodo
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
DOI: 10.1056/nejmoa0810719
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

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

A Homozygous CARD9 Mutation in a Family with Susceptibility to Fungal Infections

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Self-check

Citations

Cites

Cited by

Related

Metadata

Record

About these checks