H01109 | |
H number | H01109 |
Name | Chronic mucocutaneous candidiasis; Familial candidiasis (CANDF) |
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 |
Network | - |
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] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | Nystatin and triamcinolone acetonide [DR:D10299] |
Comment | - |
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 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 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 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 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 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 |