| Entry |
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| Name |
Chronic mucocutaneous candidiasis (CMC);
Familial candidiasis (CANDF)
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| Description |
Chronic mucocutaneous candidiasis (CMC) is 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. It has been reported that CMC is caused by mutations in components of a signaling pathway involving the cytokine interleukin-17.
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| Category |
Immune system disease
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| Pathway |
| NOD-like receptor signaling pathway | | Phagosome | | Cytokine-cytokine receptor interaction | | Chemokine signaling pathway | | Toll-like receptor signaling pathway | | Jak-STAT signaling pathway |
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| Gene |
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| Other DBs |
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| Reference |
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| Authors |
Glocker EO, Hennigs A, Nabavi M, Schaffer AA, Woellner C, Salzer U, Pfeifer D, Veelken H, Warnatz K, Tahami F, Jamal S, Manguiat A, Rezaei N, Amirzargar AA, Plebani A, Hannesschlager N, Gross O, Ruland J, Grimbacher B |
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| Title |
A homozygous CARD9 mutation in a family with susceptibility to fungal infections. |
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| Journal |
N Engl J Med 361:1727-35 (2009) |
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| Reference |
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| Authors |
Puel A, Cypowyj S, Bustamante J, Wright JF, Liu L, Lim HK, Migaud M, Israel L, Chrabieh M, Audry M, Gumbleton M, Toulon A, Bodemer C, El-Baghdadi J, Whitters M, Paradis T, Brooks J, Collins M, Wolfman NM, Al-Muhsen S, Galicchio M, Abel L, Picard C, Casanova JL |
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| Title |
Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity. |
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| Journal |
Science 332:65-8 (2011) |
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| Reference |
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| Authors |
Liu L, Okada S, Kong XF, Kreins AY, Cypowyj S, Abhyankar A, Toubiana J, Itan Y, Audry M, Nitschke P, Masson C, Toth B, Flatot J, Migaud M, Chrabieh M, Kochetkov T, Bolze A, Borghesi A, Toulon A, Hiller J, Eyerich S, Eyerich K, Gulacsy V, Chernyshova L, Chernyshov V, Bondarenko A, Maria Cortes Grimaldo R, Blancas-Galicia L, Madrigal Beas IM, Roesler J, Magdorf K, Engelhard D, Thumerelle C, Burgel PR, Hoernes M, Drexel B, Seger R, Kusuma T, Jansson AF, Sawalle-Belohradsky J, Belohradsky B, Jouanguy E, Bustamante J, Bue M, Karin N, Wildbaum G, Bodemer C, Lortholary O, Fischer A, Blanche S, Al-Muhsen S, Reichenbach J, Kobayashi M, Rosales FE, Lozano CT, Kilic SS, Oleastro M, Etzioni A, Traidl-Hoffmann C, Renner ED, Abel L, Picard C, Marodi L, Boisson-Dupuis S, Puel A, Casanova JL |
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| Title |
Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. |
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| Journal |
J Exp Med 208:1635-48 (2011) |
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