KEGG   DISEASE: Chronic mucocutaneous candidiasis
Entry
H01109                      Disease                                

Name
Chronic mucocutaneous candidiasis;
Familial candidiasis (CANDF)
  Supergrp
Candidiasis [DS:H00363]
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.
Category
Immune system disease
Brite
Human diseases [BR:br08402]
 Immune system diseases
  Other immune system diseases
   H01109  Chronic mucocutaneous candidiasis
Human diseases in ICD-11 classification [BR:br08403]
 01 Certain infectious or parasitic diseases
  Mycoses
   1F23  Candidosis
    H01109  Chronic mucocutaneous candidiasis
Related
pathway
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
Gene
(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]
Drug
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
Reference
  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
  Title
A homozygous CARD9 mutation in a family with susceptibility to fungal infections.
  Journal
N Engl J Med 361:1727-35 (2009)
DOI:10.1056/NEJMoa0810719
Reference
  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
  Title
Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity.
  Journal
Science 332:65-8 (2011)
DOI:10.1126/science.1200439
Reference
  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
  Title
Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.
  Journal
J Exp Med 208:1635-48 (2011)
DOI:10.1084/jem.20110958
Reference
  Authors
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
  Title
An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis.
  Journal
Immunity 39:676-86 (2013)
DOI:10.1016/j.immuni.2013.09.002
Reference
  Authors
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
  Title
Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis.
  Journal
J Exp Med 212:619-31 (2015)
DOI:10.1084/jem.20141065
LinkDB

» Japanese version

DBGET integrated database retrieval system