KEGG   DISEASE: Chronic mucocutaneous candidiasis
H01109                      Disease                                
Chronic mucocutaneous candidiasis;
Familial candidiasis (CANDF)
Candidiasis [DS:H00363]
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 in ICD-11 classification [BR:br08403]
 01 Certain infectious or parasitic diseases
   1F23  Candidosis
    H01109  Chronic mucocutaneous candidiasis
Pathway-based classification of diseases [BR:br08402]
 Signal transduction
  nt06518  JAK-STAT signaling
   H01109  Chronic mucocutaneous candidiasis
hsa04657  IL-17 signaling pathway
hsa04625  C-type lectin receptor signaling pathway
hsa04060  Cytokine-cytokine receptor interaction
hsa04621  NOD-like receptor signaling pathway
hsa04659  Th17 cell differentiation
nt06518 JAK-STAT signaling
(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]
(CANDF8) TRAF3IP2 [HSA:10758] [KO:K21124]
(CANDF9) IL17RC [HSA:84818] [KO:K05166]
Nystatin and triamcinolone acetonide [DR:D10299]
Other DBs
ICD-11: 1F23.14
ICD-10: B37.2
MeSH: D002178
OMIM: 212050 613108 613953 613956 614162 615527 616445
PMID:19864672 (CANDF2)
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)
PMID:19864674 (CANDF4)
Ferwerda B, Ferwerda G, Plantinga TS, Willment JA, van Spriel AB, Venselaar H, Elbers CC, Johnson MD, Cambi A, Huysamen C, Jacobs L, Jansen T, Verheijen K, Masthoff L, Morre SA, Vriend G, Williams DL, Perfect JR, Joosten LA, Wijmenga C, van der Meer JW, Adema GJ, Kullberg BJ, Brown GD, Netea MG
Human dectin-1 deficiency and mucocutaneous fungal infections.
N Engl J Med 361:1760-7 (2009)
PMID:21350122 (CANDF5_6)
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)
PMID:21727188 (CANDF7)
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)
PMID:24120361 (CANDF8)
Boisson B, Wang C, Pedergnana V, Wu L, Cypowyj S, Rybojad M, Belkadi A, Picard C, Abel L, Fieschi C, Puel A, Li X, Casanova JL
An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis.
Immunity 39:676-86 (2013)
PMID:25918342 (CANDF9)
Ling Y, Cypowyj S, Aytekin C, Galicchio M, Camcioglu Y, Nepesov S, Ikinciogullari A, Dogu F, Belkadi A, Levy R, Migaud M, Boisson B, Bolze A, Itan Y, Goudin N, Cottineau J, Picard C, Abel L, Bustamante J, Casanova JL, Puel A
Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis.
J Exp Med 212:619-31 (2015)

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