KEGG DISEASE: Chronic mucocutaneous candidiasis

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 in ICD-11 classification [BR:br08403]
01 Certain infectious or parasitic diseases
  Mycoses
   1F23  Candidosis
    H01109  Chronic mucocutaneous candidiasis
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06518  JAK-STAT signaling
   H01109  Chronic mucocutaneous candidiasis

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

Network

nt06518 JAK-STAT signaling

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

PMID:19864672 (CANDF2)

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

PMID:19864674 (CANDF4)

Authors

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

Title

Human dectin-1 deficiency and mucocutaneous fungal infections.

Journal

N Engl J Med 361:1760-7 (2009)
DOI:10.1056/NEJMoa0901053

Reference

PMID:21350122 (CANDF5_6)

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

PMID:21727188 (CANDF7)

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

PMID:24120361 (CANDF8)

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

PMID:25918342 (CANDF9)

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

» Japanese version

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Network (2)   
   KEGG NETWORK (1)   
   KEGG VARIANT (1)   
Disease (7)   
   OMIM (7)   
Drug (2)   
   KEGG DRUG (2)   
Gene (14)   
   KEGG ORTHOLOGY (7)   
   KEGG GENES (7)   
Literature (6)   
   PubMed (6)   
All databases (31)   

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