The DOI matches its Crossref record; 27 of the 27 references it cites were found in a registry or an index.
STAT1 Mutations in Autosomal Dominant Chronic Mucocutaneous Candidiasis
Open accessAbstract
BACKGROUND: Chronic mucocutaneous candidiasis (CMC) is characterized by susceptibility to candida infection of skin, nails, and mucous membranes. Patients with recessive CMC and autoimmunity have mutations in the autoimmune regulator AIRE. The cause of autosomal dominant CMC is unknown. METHODS: We evaluated 14 patients from five families with autosomal dominant CMC. We incubated their peripheral-blood mononuclear cells with different combinations of stimuli to test the integrity of pathways that mediate immunity, which led to the selection of 100 genes that were most likely to contain the genetic defect. We used an array-based sequence-capture assay, followed by next-generation sequencing, to identify mutations. RESULTS: The mononuclear cells from the affected patients were characterized by poor production of interferon-γ, interleukin-17, and interleukin-22, suggesting that the defect lay within the interleukin-12 receptor and interleukin-23 receptor signaling pathways. We identified heterozygous missense mutations in the DNA sequence encoding the coiled-coil (CC) domain of signal transducer and activator of transcription 1 (STAT1) in the patients. These mutations lead to defective responses in type 1 and type 17 helper T cells (Th1 and Th17). The interferon-γ receptor pathway was intact in these patients. CONCLUSIONS: Mutations in the CC domain of STAT1 underlie autosomal dominant CMC and lead to defective Th1 and Th17 responses, which may explain the increased susceptibility to fungal infection. (Funded by the Netherlands Organization for Scientific Research and others.).
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Cites
A map of human genome variation from population-scale sequencing.
The 1000 Genomes Project Consortium (2010) · Nature · doi:10.1038/nature09534 · Cited by 7,877
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Impaired TH17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome
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Self-citationA de novo paradigm for mental retardation.
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Self-citationImpaired response to interferon-α/β and lethal viral disease in human STAT1 deficiency
Dupuis, S., Jouanguy, E., Al-Hajjar, S., Fieschi, C., Al-Mohsen, I. Z., Al-Jumaah, S., Yang, K., Chapgier, A., Eidenschenk, C., Eid, P., et al. (2003) · Nature Genetics · doi:10.1038/ng1097 · Cited by 816
A Homozygous CARD9 Mutation in a Family with Susceptibility to Fungal Infections
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Hidden Killers: Human Fungal Infections
Brown, G. D., Denning, D. W., Gow, N. A. R., Levitz, S. M., Netea, M. G., & White, T. C. (2012) · Science Translational Medicine · doi:10.1126/scitranslmed.3004404 · Cited by 4,284
Self-citationType I interferons in infectious disease
McNab, F., Mayer-Barber, K., Sher, A., Wack, A., & O'Garra, A. (2015) · Nature Reviews Immunology · doi:10.1038/nri3787 · Cited by 2,780
The IL-23-IL-17 immune axis: from mechanisms to therapeutic testing
Gaffen, S. L., Jain, R., Garg, A. V., & Cua, D. J. (2014) · Nature reviews. Immunology · doi:10.1038/nri3707 · Cited by 1,585
JAKs and STATs in immunity, immunodeficiency, and cancer
O'Shea, J. J., Holland, S. M., & Staudt, L. M. (2013) · New England Journal of Medicine · doi:10.1056/nejmra1202117 · Cited by 927
Candida albicans morphogenesis and host defence: discriminating invasion from colonization
Gow, N. A. R., van de Veerdonk, F. L., Brown, A. J. P., & Netea, M. G. (2012) · Nature Reviews Microbiology · doi:10.1038/nrmicro2711 · Cited by 888
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Metadata
- Authors
- 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., Kullberg, B. J., van der Meer, J. W. M., Lilic, D., Veltman, J. A., & Netea, M. G.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2011-07-07
- Volume
- 365
- Issue
- 1
- Pages
- 54-61
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2114043064
- Cited by
- 666
- References
- 27
- FWCI
- 23.07
- Type
- journal article
- Language
- en
- Open access
- green
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- 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., Kullberg, B. J., van der Meer, J. W. M., Lilic, D., Veltman, J. A., & Netea, M. G. (2011). STAT1 Mutations in Autosomal Dominant Chronic Mucocutaneous Candidiasis. New England Journal of Medicine. https://doi.org/10.1056/nejmoa1100102
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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