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Candidiasis, familial, 9(CANDF9)

MedGen UID:
906897
Concept ID:
C4225324
Disease or Syndrome
Synonym: CANDF9
 
Gene (location): IL17RC (3p25.3)
 
Monarch Initiative: MONDO:0014642
OMIM®: 616445

Definition

Any chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the IL17RC gene. [from MONDO]

Clinical features

From HPO
Chronic mucocutaneous candidiasis
MedGen UID:
2426
Concept ID:
C0006845
Disease or Syndrome
Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails.
Onychomycosis
MedGen UID:
11825
Concept ID:
C0040261
Disease or Syndrome
A fungal infection of the toenails or fingernails that tends to cause the nails to thicken, discolor, disfigure, and split.
Esophageal candidiasis
MedGen UID:
66784
Concept ID:
C0239295
Disease or Syndrome
Candida infections of the esophagus are considered opportunistic infections and are seen most commonly in immunosuppressed patients, the most common symptoms being dysphagia, odynophagia, and retrosternal pain.
Recurrent aphthous stomatitis
MedGen UID:
445425
Concept ID:
C2937365
Disease or Syndrome
Recurrent episodes of ulceration of the oral mucosa, typically presenting as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border.

Professional guidelines

PubMed

Benedict K, Moret R, Molinari NAM, Jackson BR
PLoS One 2022;17(12):e0278630. Epub 2022 Dec 30 doi: 10.1371/journal.pone.0278630. PMID: 36584109Free PMC Article
Benedict K, Lyman M, Jackson BR
PLoS One 2022;17(4):e0267866. Epub 2022 Apr 28 doi: 10.1371/journal.pone.0267866. PMID: 35482794Free PMC Article
Swedberg JA, Petravage JB
Compr Ther 1991 Sep;17(9):17-21. PMID: 1769193

Recent clinical studies

Etiology

Mahdavi FS, Tavakol M, Aghamahdi F, Sadri H, Chavoshzadeh Z, Jamee M, Noorian S, Alaei MR, Ashkevari P, Anaya JM, Abolhassani H, Ochs HD, Azizi G
Endocr Metab Immune Disord Drug Targets 2024;24(7):798-807. doi: 10.2174/1871530323666230912124951. PMID: 37702233
Ang XY, Roslan NS, Ahmad N, Yusof SM, Abdullah N, Nik Ab Rahman NN, Woon JJ, Teh CS, Todorov SD, Liu G, Liong MT
Benef Microbes 2023 Nov 23;14(5):421-431. doi: 10.1163/18762891-20220103. PMID: 38350486
Fisher BT, Boge CLK, Xiao R, Shuster S, Chin-Quee D, Allen J, Shaheen S, Hayden R, Suganda S, Zaoutis TE, Chang YC, Yin DE, Huppler AR, Danziger-Isakov L, Muller WJ, Roilides E, Romero J, Sue PK, Berman D, Wattier RL, Halasa N, Pong A, Maron G, Soler-Palacin P, Hutto SC, Gonzalez BE, Salvatore CM, Rajan S, Green M, Doby Knackstedt E, Hauger SB, Steinbach WJ
Clin Infect Dis 2022 Aug 25;75(2):248-259. doi: 10.1093/cid/ciab928. PMID: 35134165Free PMC Article
Turner SA, Butler G
Cold Spring Harb Perspect Med 2014 Sep 2;4(9):a019778. doi: 10.1101/cshperspect.a019778. PMID: 25183855Free PMC Article
Hassan E, Creatsas G, Gravanis A, Georgoulias V, Psychoyos A
Ann N Y Acad Sci 1997 Jun 17;816:451-6. doi: 10.1111/j.1749-6632.1997.tb52175.x. PMID: 9238301

Diagnosis

Mahdavi FS, Tavakol M, Aghamahdi F, Sadri H, Chavoshzadeh Z, Jamee M, Noorian S, Alaei MR, Ashkevari P, Anaya JM, Abolhassani H, Ochs HD, Azizi G
Endocr Metab Immune Disord Drug Targets 2024;24(7):798-807. doi: 10.2174/1871530323666230912124951. PMID: 37702233
Fisher BT, Boge CLK, Xiao R, Shuster S, Chin-Quee D, Allen J, Shaheen S, Hayden R, Suganda S, Zaoutis TE, Chang YC, Yin DE, Huppler AR, Danziger-Isakov L, Muller WJ, Roilides E, Romero J, Sue PK, Berman D, Wattier RL, Halasa N, Pong A, Maron G, Soler-Palacin P, Hutto SC, Gonzalez BE, Salvatore CM, Rajan S, Green M, Doby Knackstedt E, Hauger SB, Steinbach WJ
Clin Infect Dis 2022 Aug 25;75(2):248-259. doi: 10.1093/cid/ciab928. PMID: 35134165Free PMC Article
Lawrence RA
Breastfeed Med 2014 Mar;9(2):51-2. doi: 10.1089/bfm.2014.9993. PMID: 24564562
Anderson MR, Klink K, Cohrssen A
JAMA 2004 Mar 17;291(11):1368-79. doi: 10.1001/jama.291.11.1368. PMID: 15026404
Swedberg JA, Petravage JB
Compr Ther 1991 Sep;17(9):17-21. PMID: 1769193

Therapy

Ang XY, Roslan NS, Ahmad N, Yusof SM, Abdullah N, Nik Ab Rahman NN, Woon JJ, Teh CS, Todorov SD, Liu G, Liong MT
Benef Microbes 2023 Nov 23;14(5):421-431. doi: 10.1163/18762891-20220103. PMID: 38350486
Lawrence RA
Breastfeed Med 2014 Mar;9(2):51-2. doi: 10.1089/bfm.2014.9993. PMID: 24564562
Gómez-López A, Zaragoza O, Rodríguez-Tudela JL, Cuenca-Estrella M
Expert Opin Pharmacother 2008 Nov;9(16):2801-16. doi: 10.1517/14656566.9.16.2801. PMID: 18937613
Hassan E, Creatsas G, Gravanis A, Georgoulias V, Psychoyos A
Ann N Y Acad Sci 1997 Jun 17;816:451-6. doi: 10.1111/j.1749-6632.1997.tb52175.x. PMID: 9238301
Swedberg JA, Petravage JB
Compr Ther 1991 Sep;17(9):17-21. PMID: 1769193

Prognosis

Fisher BT, Boge CLK, Xiao R, Shuster S, Chin-Quee D, Allen J, Shaheen S, Hayden R, Suganda S, Zaoutis TE, Chang YC, Yin DE, Huppler AR, Danziger-Isakov L, Muller WJ, Roilides E, Romero J, Sue PK, Berman D, Wattier RL, Halasa N, Pong A, Maron G, Soler-Palacin P, Hutto SC, Gonzalez BE, Salvatore CM, Rajan S, Green M, Doby Knackstedt E, Hauger SB, Steinbach WJ
Clin Infect Dis 2022 Aug 25;75(2):248-259. doi: 10.1093/cid/ciab928. PMID: 35134165Free PMC Article
Alkhars N, Zeng Y, Alomeir N, Al Jallad N, Wu TT, Aboelmagd S, Youssef M, Jang H, Fogarty C, Xiao J
J Dent Res 2022 Jan;101(1):54-62. Epub 2021 May 21 doi: 10.1177/00220345211012385. PMID: 34018817Free PMC Article
Pfavayi LT, Denning DW, Baker S, Sibanda EN, Mutapi F
Sci Rep 2021 Jun 24;11(1):13240. doi: 10.1038/s41598-021-92605-1. PMID: 34168204Free PMC Article
Buck ML, Amir LH, Cullinane M, Donath SM; CASTLE Study Team
Breastfeed Med 2014 Mar;9(2):56-62. Epub 2013 Dec 31 doi: 10.1089/bfm.2013.0106. PMID: 24380583Free PMC Article
Anderson MR, Klink K, Cohrssen A
JAMA 2004 Mar 17;291(11):1368-79. doi: 10.1001/jama.291.11.1368. PMID: 15026404

Clinical prediction guides

Zhang Y, Vandestienne M, Lavillegrand JR, Joffre J, Santos-Zas I, Lavelle A, Zhong X, Le Goff W, Guérin M, Al-Rifai R, Laurans L, Bruneval P, Guérin C, Diedisheim M, Migaud M, Puel A, Lanternier F, Casanova JL, Cochain C, Zernecke A, Saliba AE, Mokry M, Silvestre JS, Tedgui A, Mallat Z, Taleb S, Lenoir O, Vindis C, Camus SM, Sokol H, Ait-Oufella H
Nat Commun 2023 Aug 1;14(1):4622. doi: 10.1038/s41467-023-40216-x. PMID: 37528097Free PMC Article
Fisher BT, Boge CLK, Xiao R, Shuster S, Chin-Quee D, Allen J, Shaheen S, Hayden R, Suganda S, Zaoutis TE, Chang YC, Yin DE, Huppler AR, Danziger-Isakov L, Muller WJ, Roilides E, Romero J, Sue PK, Berman D, Wattier RL, Halasa N, Pong A, Maron G, Soler-Palacin P, Hutto SC, Gonzalez BE, Salvatore CM, Rajan S, Green M, Doby Knackstedt E, Hauger SB, Steinbach WJ
Clin Infect Dis 2022 Aug 25;75(2):248-259. doi: 10.1093/cid/ciab928. PMID: 35134165Free PMC Article
Alkhars N, Zeng Y, Alomeir N, Al Jallad N, Wu TT, Aboelmagd S, Youssef M, Jang H, Fogarty C, Xiao J
J Dent Res 2022 Jan;101(1):54-62. Epub 2021 May 21 doi: 10.1177/00220345211012385. PMID: 34018817Free PMC Article
Wang YB, Wang O, Nie M, Jiang Y, Li M, Xia WB, Xing XP
Orphanet J Rare Dis 2021 Jul 3;16(1):296. doi: 10.1186/s13023-021-01933-y. PMID: 34217342Free PMC Article
Anderson MR, Klink K, Cohrssen A
JAMA 2004 Mar 17;291(11):1368-79. doi: 10.1001/jama.291.11.1368. PMID: 15026404

Recent systematic reviews

Shen Loo Y, Yee Wong T, Veettil SK, Se Wong P, Gopinath D, Mooi Ching S, Kunnath Menon R
Oral Dis 2021 Oct;27(7):1631-1643. Epub 2020 Sep 28 doi: 10.1111/odi.13588. PMID: 32762108

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