KEGG   DISEASE: Chronic mucocutaneous candidiasisHelp
H01109                      Disease                                

Chronic mucocutaneous candidiasis;
Familial candidiasis (CANDF)
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.
Immune system disease
Human diseases [BR:br08402]
 Immune system diseases
  Other immune system diseases
   H01109  Chronic mucocutaneous candidiasis
BRITE hierarchy
hsa04621  NOD-like receptor signaling pathway
hsa04145  Phagosome
hsa04060  Cytokine-cytokine receptor interaction
hsa04062  Chemokine signaling pathway
hsa04620  Toll-like receptor signaling pathway
hsa04630  JAK-STAT signaling pathway
(CANDF2) CARD9 [HSA:64170] [KO:K12794]
(CANDF4) CLEC7A [HSA:64581] [KO:K10074]
(CANDF5) IL17RA [HSA:23765] [KO:K05164]
(CANDF6) IL17F [HSA:112744] [KO:K05494]
(CANDF7) STAT1 [HSA:6772] [KO:K11220]
Other DBs
ICD-10: B37.2
MeSH: D002178
OMIM: 212050 613108 613953 613956 614162
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
A homozygous CARD9 mutation in a family with susceptibility to fungal infections.
N Engl J Med 361:1727-35 (2009)
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
Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity.
Science 332:65-8 (2011)
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
Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.
J Exp Med 208:1635-48 (2011)

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