The DOI matches its Crossref record; 8 of the 8 references it cites were found in a registry or an index.
Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis
Open accessAbstract
PURPOSE OF REVIEW: Chronic mucocutaneous candidiasis (CMC) is characterized by recurrent or persistent symptomatic infection of the nails, skin and mucosae mostly by Candida albicans. CMC is common in patients with profound primary T-cell immunodeficiency, who often display multiple infectious and autoimmune diseases. Patients with syndromic CMC, including autosomal dominant hyper IgE syndrome (AD-HIES) and autosomal recessive autoimmune polyendocrinopathy syndrome type I (APS-I), display fewer other infections. Patients with isolated CMC (CMCD) rarely display any other severe disease. We review here recent progress in the genetic dissection of these three types of inherited CMC. RECENT FINDINGS: Low IL-17 T-cell proportions were reported in patients with AD-HIES bearing heterozygous STAT3 mutations, prone to CMC and staphylococcal diseases, and in a kindred with autosomal recessive CARD9 deficiency, prone to CMC and other fungal infections. High levels of neutralizing autoantibodies against IL-17 cytokines were documented in patients with APS-I presenting with CMC as their only infectious disease. The first three genetic causes of CMCD were then reported: autosomal recessive IL-17RA and autosomal dominant IL-17F deficiencies and autosomal dominant STAT1 gain-of-function, impairing IL-17-producing T-cell development. SUMMARY: Inborn errors of human IL-17 immunity underlie CMC. Impaired IL-17 immunity may therefore account for CMC in other settings, including patients with acquired immunodeficiency.
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Impaired TH17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome
Milner, J. D., Brenchley, J. M., Laurence, A., Freeman, A. F., Hill, B. J., Elias, K. M., Kanno, Y., Spalding, C., Elloumi, H. Z., Paulson, M. L., et al. (2008) · Nature · doi:10.1038/nature06764 · Cited by 1,157
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-citationStumhofer, J. S., Laurence, A., Wilson, E. H., Huang, E., Tato, C. M., Johnson, L. M., Villarino, A. V., Huang, Q., Yoshimura, A., Sehy, D., et al. (2006) · Nature Immunology · doi:10.1038/ni1376 · Cited by 955
A Homozygous CARD9 Mutation in a Family with Susceptibility to Fungal Infections
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Human dectin-1 deficiency and mucocutaneous fungal infections
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Cited by
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
Teng, M. W. L., Bowman, E. P., McElwee, J. J., Smyth, M. J., Casanova, J.-L., Cooper, A. M., & Cua, D. J. (2015) · Nature Medicine · doi:10.1038/nm.3895 · Cited by 873
Self-citationThe plasticity of human Treg and Th17 cells and its role in autoimmunity
Kleinewietfeld, M., & Hafler, D. A. (2013) · Seminars in Immunology · doi:10.1016/j.smim.2013.10.009 · Cited by 389
Immune responses to human fungal pathogens and therapeutic prospects
Lionakis, M. S., Drummond, R. A., & Hohl, T. M. (2023) · Nature Reviews Immunology · doi:10.1038/s41577-022-00826-w · Cited by 379
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
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Metadata
- Authors
- Puel, A., Cypowyj, S., Maródi, L., Abel, L., Picard, C., & Casanova, J.-L.
- Venue
- Current Opinion in Allergy & Clinical Immunology
- Published
- 2012-12
- Volume
- 12
- Issue
- 6
- Pages
- 616-622
- ISSN
- 1473-6322 (ISSN-L)
- 1528-4050
- OpenAlex
- W2071504008
- Cited by
- 315
- References
- 8
- FWCI
- 8.87
- Type
- journal article
- Language
- en
- Open access
- green
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- Puel, A., Cypowyj, S., Maródi, L., Abel, L., Picard, C., & Casanova, J.-L. (2012). Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis. Current Opinion in Allergy & Clinical Immunology. https://doi.org/10.1097/aci.0b013e328358cc0b
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