The DOI matches its Crossref record; 26 of the 26 references it cites were found in a registry or an index.
Deep Dermatophytosis and Inherited CARD9 Deficiency
Open accessAbstract
BACKGROUND: Deep dermatophytosis is a severe and sometimes life-threatening fungal infection caused by dermatophytes. It is characterized by extensive dermal and subcutaneous tissue invasion and by frequent dissemination to the lymph nodes and, occasionally, the central nervous system. The condition is different from common superficial dermatophyte infection and has been reported in patients with no known immunodeficiency. Patients are mostly from North African, consanguineous, multiplex families, which strongly suggests a mendelian genetic cause. METHODS: We studied the clinical features of deep dermatophytosis in 17 patients with no known immunodeficiency from eight unrelated Tunisian, Algerian, and Moroccan families. Because CARD9 (caspase recruitment domain-containing protein 9) deficiency has been reported in an Iranian family with invasive fungal infections, we also sequenced CARD9 in the patients. RESULTS: Four patients died, at 28, 29, 37, and 39 years of age, with clinically active deep dermatophytosis. No other severe infections, fungal or otherwise, were reported in the surviving patients, who ranged in age from 37 to 75 years. The 15 Algerian and Tunisian patients, from seven unrelated families, had a homozygous Q289X CARD9 allele, due to a founder effect. The 2 Moroccan siblings were homozygous for the R101C CARD9 allele. Both alleles are rare deleterious variants. The familial segregation of these alleles was consistent with autosomal recessive inheritance and complete clinical penetrance. CONCLUSIONS: All the patients with deep dermatophytosis had autosomal recessive CARD9 deficiency. Deep dermatophytosis appears to be an important clinical manifestation of CARD9 deficiency. (Funded by Agence Nationale pour la Recherche and others.).
Overview
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
Cites
Statistics
Verification
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.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
A method and server for predicting damaging missense mutations.
Adzhubei, I. A., Schmidt, S., Peshkin, L., Ramensky, V. E., Gerasimova, A., Bork, P., Kondrashov, A. S., & Sunyaev, S. R. (2010) · Nature Methods · doi:10.1038/nmeth0410-248 · Cited by 13,194
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
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
Self-citationCard9 controls a non-TLR signalling pathway for innate anti-fungal immunity
Gross, O., Gewies, A., Finger, K., Schäfer, M., Sparwasser, T., Peschel, C., Förster, I., & Ruland, J. (2006) · Nature · doi:10.1038/nature04926 · Cited by 853
A Homozygous CARD9 Mutation in a Family with Susceptibility to Fungal Infections
Glocker, E.-O., Hennigs, A., Nabavi, M., Schäffer, A. A., Woellner, C., Salzer, U., Pfeifer, D., Veelken, H., Warnatz, K., Tahami, F., et al. (2009) · New England Journal of Medicine · doi:10.1056/nejmoa0810719 · Cited by 800
Self-citationLiu, L., Okada, S., Kong, X.-F., Kreins, A. Y., Cypowyj, S., Abhyankar, A., Toubiana, J., Itan, Y., Audry, M., Nitschke, P., et al. (2011) · Journal of Experimental Medicine · doi:10.1084/jem.20110958 · Cited by 797
Self-citationPuel, A., Döffinger, R., Natividad, A., Chrabieh, M., Barcenas-Morales, G., Picard, C., Cobat, A., Ouachée-Chardin, M., Toulon, A., Bustamante, J., et al. (2010) · Journal of Experimental Medicine · doi:10.1084/jem.20091983 · Cited by 733
Self-citationKisand, K., Bøe Wolff, A. S., Podkrajšek, K. T., Tserel, L., Link, M., Kisand, K. V., Ersvaer, E., Perheentupa, J., Erichsen, M. M., Bratanic, N., et al. (2010) · Journal of Experimental Medicine · doi:10.1084/jem.20091669 · Cited by 677
STAT1 Mutations in Autosomal Dominant Chronic Mucocutaneous Candidiasis
van de Veerdonk, F. L., Plantinga, T. S., Hoischen, A., Smeekens, S. P., Joosten, L. A. B., Gilissen, C., Arts, P., Rosentul, D. C., Carmichael, A. J., Smits-van der Graaf, C. A. A., et al. (2011) · New England Journal of Medicine · doi:10.1056/nejmoa1100102 · Cited by 666
Updates on the Epidemiology of Dermatophyte Infections
Seebacher, C., Bouchara, J.-P., & Mignon, B. (2008) · Mycopathologia · doi:10.1007/s11046-008-9100-9 · Cited by 554
Cited by
The mycobiota: interactions between commensal fungi and the host immune system
Underhill, D. M., & Iliev, I. D. (2014) · Nature Reviews Immunology · doi:10.1038/nri3684 · Cited by 695
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype
Toubiana, J., Okada, S., Hiller, J., Oleastro, M., Lagos Gomez, M., Aldave Becerra, J. C., Ouachée-Chardin, M., Fouyssac, F., Girisha, K. M., Etzioni, A., et al. (2016) · Blood · doi:10.1182/blood-2015-11-679902 · Cited by 577
Self-citationPathogenesis and virulence of Candida albicans
Lopes, J. P., & Lionakis, M. S. (2022) · Virulence · doi:10.1080/21505594.2021.2019950 · Cited by 477
Boisson, B., Wang, C., Pedergnana, V., Wu, L., Cypowyj, S., Rybojad, M., Belkadi, A., Picard, C., Abel, L., Fieschi, C., et al. (2013) · Immunity · doi:10.1016/j.immuni.2013.09.002 · Cited by 293
Self-citationHay, R. J. (2017) · Mycopathologia · doi:10.1007/s11046-016-0058-8 · Cited by 277
Self-citation
Metadata
- Authors
- Lanternier, F., Pathan, S., Vincent, Q. B., Liu, L., Cypowyj, S., Prando, C., Migaud, M., Taibi, L., Ammar-Khodja, A., Boudghene Stambouli, O., Guellil, B., Jacobs, F., Goffard, J.-C., Schepers, K., del Marmol, V., Boussofara, L., Denguezli, M., Larif, M., Bachelez, H., Michel, L., Lefranc, G., Hay, R., Jouvion, G., Chretien, F., Fraitag, S., Bougnoux, M.-E., Boudia, M., Abel, L., Lortholary, O., Casanova, J.-L., Picard, C., Grimbacher, B., & Puel, A.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2013-10-31
- Volume
- 369
- Issue
- 18
- Pages
- 1704-1714
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2092807701
- Cited by
- 400
- References
- 26
- FWCI
- 15.26
- Type
- journal article
- Language
- en
- Open access
- bronze
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
How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: Deep Dermatophytosis and Inherited CARD9 Deficiency. https://app.cochat.ai/papers/10.1056/nejmoa1208487
- The paper
- Lanternier, F., Pathan, S., Vincent, Q. B., Liu, L., Cypowyj, S., Prando, C., Migaud, M., Taibi, L., Ammar-Khodja, A., Boudghene Stambouli, O., Guellil, B., Jacobs, F., Goffard, J.-C., Schepers, K., del Marmol, V., Boussofara, L., Denguezli, M., Larif, M., Bachelez, H., . . . Puel, A. (2013). Deep Dermatophytosis and Inherited CARD9 Deficiency. New England Journal of Medicine. https://doi.org/10.1056/nejmoa1208487
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
