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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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Survey of healthcare providers' testing practices for vulvovaginal candidiasis and treatment outcomes-United States, 2021.
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
Possible misdiagnosis, inappropriate empiric treatment, and opportunities for increased diagnostic testing for patients with vulvovaginal candidiasis-United States, 2018.
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
Vulvovaginitis: diagnosis and management.
Swedberg JA, Petravage JB
Compr Ther 1991 Sep;17(9):17-21. PMID: 1769193

Recent clinical studies

Etiology

CARD9 mutations in patients with fungal infections: An update from the last 5 years.
Dantas MDS, Cintra MEC, Lucini F, Venturini J, de Souza GHA, Rossato L
Mycoses 2024 Mar;67(3):e13712. doi: 10.1111/myc.13712. PMID: 38483073
Successful application of photodynamic therapy for skin infection caused by Corynespora cassiicola in an immunosuppressed patient and literature review.
Feng Y, Zeng Q, Qiu Y, Li D, Shi D
Photodiagnosis Photodyn Ther 2023 Mar;41:103279. Epub 2023 Jan 9 doi: 10.1016/j.pdpdt.2023.103279. PMID: 36632874
Antifungal agents in preventing oral candidiasis in clinical oncology: A network meta-analysis.
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
Autosomal Dominant Hyper-IgE Syndrome in the USIDNET Registry.
Gernez Y, Freeman AF, Holland SM, Garabedian E, Patel NC, Puck JM, Sullivan KE, Akhter J, Secord E, Chen K, Buckley R, Haddad E, Ochs HD, Fuleihan R, Routes J, Muskat M, Lugar P, Mancini J, Cunningham-Rundles C
J Allergy Clin Immunol Pract 2018 May-Jun;6(3):996-1001. Epub 2017 Sep 19 doi: 10.1016/j.jaip.2017.06.041. PMID: 28939137Free PMC Article
The Candida pathogenic species complex.
Turner SA, Butler G
Cold Spring Harb Perspect Med 2014 Sep 2;4(9):a019778. doi: 10.1101/cshperspect.a019778. PMID: 25183855Free PMC Article

Diagnosis

Deep dermatophytosis caused by Trichophyton rubrum in an elderly patient with CARD9 deficiency: A case report and literature review.
Ansai O, Hayashi R, Nakamura A, Sasaki J, Hasegawa A, Deguchi T, Yuki A, Oike N, Ariizumi T, Abe M, Miyazaki Y, Takenouchi T, Kawashima H, Abe R
J Dermatol 2024 Feb;51(2):294-300. Epub 2023 Oct 7 doi: 10.1111/1346-8138.16995. PMID: 37804063
CARD9 Deficiency in a Chinese Man with Cutaneous Mucormycosis, Recurrent Deep Dermatophytosis and a Review of the Literature.
Wang X, Ding H, Chen Z, Zeng X, Sun J, Chen H, Fu M
Mycopathologia 2020 Dec;185(6):1041-1050. Epub 2020 Aug 31 doi: 10.1007/s11046-020-00487-0. PMID: 32865705
Autoimmune Polyglandular Syndrome Type 1: a case report.
Sajjadi-Jazi SM, Soltani A, Enayati S, Kakavand Hamidi A, Amoli MM
BMC Med Genet 2019 Aug 16;20(1):143. doi: 10.1186/s12881-019-0870-3. PMID: 31420020Free PMC Article
Autosomal Dominant Hyper-IgE Syndrome in the USIDNET Registry.
Gernez Y, Freeman AF, Holland SM, Garabedian E, Patel NC, Puck JM, Sullivan KE, Akhter J, Secord E, Chen K, Buckley R, Haddad E, Ochs HD, Fuleihan R, Routes J, Muskat M, Lugar P, Mancini J, Cunningham-Rundles C
J Allergy Clin Immunol Pract 2018 May-Jun;6(3):996-1001. Epub 2017 Sep 19 doi: 10.1016/j.jaip.2017.06.041. PMID: 28939137Free PMC Article
The wisdom of pain.
Lawrence RA
Breastfeed Med 2014 Mar;9(2):51-2. doi: 10.1089/bfm.2014.9993. PMID: 24564562

Therapy

Antifungal agents in preventing oral candidiasis in clinical oncology: A network meta-analysis.
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
Successful Allogenic Stem Cell Transplantation in Patients with Inherited CARD9 Deficiency.
Queiroz-Telles F, Mercier T, Maertens J, Sola CBS, Bonfim C, Lortholary O, Constantino-Silva RMN, Schrijvers R, Hagen F, Meis JF, Herkert PF, Breda GL, França JB, Filho NAR, Lanternier F, Casanova JL, Puel A, Grumach AS
J Clin Immunol 2019 Jul;39(5):462-469. Epub 2019 Jun 20 doi: 10.1007/s10875-019-00662-z. PMID: 31222666
The wisdom of pain.
Lawrence RA
Breastfeed Med 2014 Mar;9(2):51-2. doi: 10.1089/bfm.2014.9993. PMID: 24564562
Pharmacotherapy of yeast infections.
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
Candida albicans and the contraceptive pill.
Catterall RD
Lancet 1966 Oct 15;2(7468):830-1. doi: 10.1016/s0140-6736(66)92256-2. PMID: 4162170

Prognosis

Candida auris: Understanding the dynamics of C. auris infection versus colonization.
Park S, Kim H, Hong D, Oh H
Med Mycol 2024 Sep 6;62(9) doi: 10.1093/mmy/myae086. PMID: 39152089
Successful application of photodynamic therapy for skin infection caused by Corynespora cassiicola in an immunosuppressed patient and literature review.
Feng Y, Zeng Q, Qiu Y, Li D, Shi D
Photodiagnosis Photodyn Ther 2023 Mar;41:103279. Epub 2023 Jan 9 doi: 10.1016/j.pdpdt.2023.103279. PMID: 36632874
Successful Allogenic Stem Cell Transplantation in Patients with Inherited CARD9 Deficiency.
Queiroz-Telles F, Mercier T, Maertens J, Sola CBS, Bonfim C, Lortholary O, Constantino-Silva RMN, Schrijvers R, Hagen F, Meis JF, Herkert PF, Breda GL, França JB, Filho NAR, Lanternier F, Casanova JL, Puel A, Grumach AS
J Clin Immunol 2019 Jul;39(5):462-469. Epub 2019 Jun 20 doi: 10.1007/s10875-019-00662-z. PMID: 31222666
Autosomal Dominant Hyper-IgE Syndrome in the USIDNET Registry.
Gernez Y, Freeman AF, Holland SM, Garabedian E, Patel NC, Puck JM, Sullivan KE, Akhter J, Secord E, Chen K, Buckley R, Haddad E, Ochs HD, Fuleihan R, Routes J, Muskat M, Lugar P, Mancini J, Cunningham-Rundles C
J Allergy Clin Immunol Pract 2018 May-Jun;6(3):996-1001. Epub 2017 Sep 19 doi: 10.1016/j.jaip.2017.06.041. PMID: 28939137Free PMC Article
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy: report of three cases from Iran.
Seifi-Alan M, Shamsi R, Setoodeh A, Sayarifard F, Aghasi P, Kompani F, Ghafouri-Fard S, Abbasi F
J Pediatr Endocrinol Metab 2016 Aug 1;29(8):979-83. doi: 10.1515/jpem-2016-0017. PMID: 27105486

Clinical prediction guides

Candida auris: Understanding the dynamics of C. auris infection versus colonization.
Park S, Kim H, Hong D, Oh H
Med Mycol 2024 Sep 6;62(9) doi: 10.1093/mmy/myae086. PMID: 39152089
CARD9 mutations in patients with fungal infections: An update from the last 5 years.
Dantas MDS, Cintra MEC, Lucini F, Venturini J, de Souza GHA, Rossato L
Mycoses 2024 Mar;67(3):e13712. doi: 10.1111/myc.13712. PMID: 38483073
Genetic inhibition of CARD9 accelerates the development of atherosclerosis in mice through CD36 dependent-defective autophagy.
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
Antifungal agents in preventing oral candidiasis in clinical oncology: A network meta-analysis.
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
A homozygous CARD9 mutation in a family with susceptibility to fungal infections.
Glocker EO, Hennigs A, Nabavi M, Schäffer AA, Woellner C, Salzer U, Pfeifer D, Veelken H, Warnatz K, Tahami F, Jamal S, Manguiat A, Rezaei N, Amirzargar AA, Plebani A, Hannesschläger N, Gross O, Ruland J, Grimbacher B
N Engl J Med 2009 Oct 29;361(18):1727-35. doi: 10.1056/NEJMoa0810719. PMID: 19864672Free PMC Article

Recent systematic reviews

Antifungal agents in preventing oral candidiasis in clinical oncology: A network meta-analysis.
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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    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
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