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Candidiasis, familial, 6(CANDF6)

MedGen UID:
462755
•Concept ID:
C3151405
•
Disease or Syndrome
Synonyms: CANDF6; Candidiasis, familial, 6, autosomal dominant
 
Gene (location): IL17F (6p12.2)
 
Monarch Initiative: MONDO:0013503
OMIM®: 613956

Definition

Any familial chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the IL17F 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

Professional guidelines

PubMed

Integrating Clinical and Microbiological Expertise to Improve Vaginal Candidiasis Management.
Karakoyun AS, Unal N, Sucu M, Bingöl O, Unal I, Ilkit M
Mycopathologia 2024 Nov 8;189(6):96. doi: 10.1007/s11046-024-00904-8. PMID: 39514006
Incidence and management of oral conditions in general practice.
Deconinck S, Boeke AJ, van der Waal I, van der Windt DA
Br J Gen Pract 2003 Feb;53(487):130-2. PMID: 12817359Free PMC Article
A prospective study to assess the efficacy of ketoconazole in the treatment of recurrent vaginal candidiasis.
Kovacs GT, Westcott M, Rusden J
Med J Aust 1990 Sep 17;153(6):328-30. doi: 10.5694/j.1326-5377.1990.tb136940.x. PMID: 2233450

Recent clinical studies

Etiology

Global incidence and mortality of severe fungal disease.
Denning DW
Lancet Infect Dis 2024 Jul;24(7):e428-e438. Epub 2024 Jan 12 doi: 10.1016/S1473-3099(23)00692-8. PMID: 38224705
ESCMID Study Group for Infections in Compromised Hosts (ESGICH) Consensus Document on the safety of targeted and biological therapies: an infectious diseases perspective (Soluble immune effector molecules [II]: agents targeting interleukins, immunoglobulins and complement factors).
Winthrop KL, Mariette X, Silva JT, Benamu E, Calabrese LH, Dumusc A, Smolen JS, Aguado JM, Fernández-Ruiz M
Clin Microbiol Infect 2018 Jun;24 Suppl 2:S21-S40. Epub 2018 Feb 12 doi: 10.1016/j.cmi.2018.02.002. PMID: 29447987
Resistant pathogens, fungi, and viruses.
Guidry CA, Mansfield SA, Sawyer RG, Cook CH
Surg Clin North Am 2014 Dec;94(6):1195-218. Epub 2014 Oct 3 doi: 10.1016/j.suc.2014.08.010. PMID: 25440119Free PMC Article
Recurrent vaginal candidiasis.
Loh KY, Sivalingam N
Med J Malaysia 2003 Dec;58(5):788-92. PMID: 15190674
Fungal vulvovaginitis.
Maccato ML, Kaufman RH
Curr Opin Obstet Gynecol 1991 Dec;3(6):849-52. PMID: 1818723

Diagnosis

Congenital cutaneous candidiasis in one infant among a twin sibling pair.
Akutsu A, Otsubo Y, Suzumura H, Yoshihara S
Arch Dis Child Fetal Neonatal Ed 2022 Nov;107(6):637. Epub 2021 May 27 doi: 10.1136/archdischild-2021-322107. PMID: 34045281
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
Resistant pathogens, fungi, and viruses.
Guidry CA, Mansfield SA, Sawyer RG, Cook CH
Surg Clin North Am 2014 Dec;94(6):1195-218. Epub 2014 Oct 3 doi: 10.1016/j.suc.2014.08.010. PMID: 25440119Free PMC Article
Infectious endophthalmitis.
Pflugfelder SC, Flynn HW Jr
Infect Dis Clin North Am 1992 Dec;6(4):859-73. PMID: 1460267
Fungal vulvovaginitis.
Maccato ML, Kaufman RH
Curr Opin Obstet Gynecol 1991 Dec;3(6):849-52. PMID: 1818723

Therapy

ESCMID Study Group for Infections in Compromised Hosts (ESGICH) Consensus Document on the safety of targeted and biological therapies: an infectious diseases perspective (Soluble immune effector molecules [II]: agents targeting interleukins, immunoglobulins and complement factors).
Winthrop KL, Mariette X, Silva JT, Benamu E, Calabrese LH, Dumusc A, Smolen JS, Aguado JM, Fernández-Ruiz M
Clin Microbiol Infect 2018 Jun;24 Suppl 2:S21-S40. Epub 2018 Feb 12 doi: 10.1016/j.cmi.2018.02.002. PMID: 29447987
Recurrent vulvovaginal candidiasis.
Belayneh M, Sehn E, Korownyk C
Can Fam Physician 2017 Jun;63(6):455. PMID: 28615397Free PMC Article
Resistant pathogens, fungi, and viruses.
Guidry CA, Mansfield SA, Sawyer RG, Cook CH
Surg Clin North Am 2014 Dec;94(6):1195-218. Epub 2014 Oct 3 doi: 10.1016/j.suc.2014.08.010. PMID: 25440119Free PMC Article
Clinical inquiries. Can probiotics safely prevent recurrent vaginitis?
Jurden L, Buchanan M, Kelsberg G, Safranek S
J Fam Pract 2012 Jun;61(6):357, 368. PMID: 22670239
Unusal signs and symptoms associated with oral contraceptive medication.
Koide SS, Lyle KC
J Reprod Med 1975 Dec;15(6):214-24. PMID: 1104827

Prognosis

Lessons From Prospective Longitudinal Follow-up of a French APECED Cohort.
Humbert L, Proust-Lemoine E, Dubucquoi S, Kemp EH, Saugier-Veber P, Fabien N, Raymond-Top I, Cardot-Bauters C, Carel JC, Cartigny M, Chabre O, Chanson P, Delemer B, Do Cao C, Guignat L, Kahn JE, Kerlan V, Lefebvre H, Linglart A, Mallone R, Reynaud R, Sendid B, Souchon PF, Touraine P, Wémeau JL, Vantyghem MC
J Clin Endocrinol Metab 2025 Feb 18;110(3):e757-e773. doi: 10.1210/clinem/dgae211. PMID: 38605470Free PMC Article
Global incidence and mortality of severe fungal disease.
Denning DW
Lancet Infect Dis 2024 Jul;24(7):e428-e438. Epub 2024 Jan 12 doi: 10.1016/S1473-3099(23)00692-8. PMID: 38224705
Effect of antibiotics on vulvovaginal candidiasis: a MetroNet study.
Xu J, Schwartz K, Bartoces M, Monsur J, Severson RK, Sobel JD
J Am Board Fam Med 2008 Jul-Aug;21(4):261-8. doi: 10.3122/jabfm.2008.04.070169. PMID: 18612052
Recurrent vaginal candidiasis.
Loh KY, Sivalingam N
Med J Malaysia 2003 Dec;58(5):788-92. PMID: 15190674
Infectious endophthalmitis.
Pflugfelder SC, Flynn HW Jr
Infect Dis Clin North Am 1992 Dec;6(4):859-73. PMID: 1460267

Clinical prediction guides

Lessons From Prospective Longitudinal Follow-up of a French APECED Cohort.
Humbert L, Proust-Lemoine E, Dubucquoi S, Kemp EH, Saugier-Veber P, Fabien N, Raymond-Top I, Cardot-Bauters C, Carel JC, Cartigny M, Chabre O, Chanson P, Delemer B, Do Cao C, Guignat L, Kahn JE, Kerlan V, Lefebvre H, Linglart A, Mallone R, Reynaud R, Sendid B, Souchon PF, Touraine P, Wémeau JL, Vantyghem MC
J Clin Endocrinol Metab 2025 Feb 18;110(3):e757-e773. doi: 10.1210/clinem/dgae211. PMID: 38605470Free PMC Article
Clonal outbreak of Candida vulturna in a paediatric oncology ward in Maranhão, Brazil.
de Macedo AT, Santos DWCL, Spruijtenburg B, de Souza DAC, Dos Santos Barbosa LFM, Marques SG, Dos Santos JRA, Meijer EFJ, de Groot T, de Azevedo CMPES, Meis JF
J Infect 2024 Dec;89(6):106349. Epub 2024 Nov 12 doi: 10.1016/j.jinf.2024.106349. PMID: 39537034
ESCMID Study Group for Infections in Compromised Hosts (ESGICH) Consensus Document on the safety of targeted and biological therapies: an infectious diseases perspective (Soluble immune effector molecules [II]: agents targeting interleukins, immunoglobulins and complement factors).
Winthrop KL, Mariette X, Silva JT, Benamu E, Calabrese LH, Dumusc A, Smolen JS, Aguado JM, Fernández-Ruiz M
Clin Microbiol Infect 2018 Jun;24 Suppl 2:S21-S40. Epub 2018 Feb 12 doi: 10.1016/j.cmi.2018.02.002. PMID: 29447987
Effect of antibiotics on vulvovaginal candidiasis: a MetroNet study.
Xu J, Schwartz K, Bartoces M, Monsur J, Severson RK, Sobel JD
J Am Board Fam Med 2008 Jul-Aug;21(4):261-8. doi: 10.3122/jabfm.2008.04.070169. PMID: 18612052
New and old immunodeficiencies.
Stiehm ER
Pediatr Res 1993 Jan;33(1 Suppl):S2-7; discussion S7-8. doi: 10.1203/00006450-199305001-00007. PMID: 8433870

Recent systematic reviews

Candida parapsilosis: A systematic review to inform the World Health Organization fungal priority pathogens list.
Asogan M, Kim HY, Kidd S, Alastruey-Izquierdo A, Govender NP, Dao A, Shin JH, Heim J, Ford NP, Gigante V, Sati H, Morrissey CO, Alffenaar JW, Beardsley J
Med Mycol 2024 Jun 27;62(6) doi: 10.1093/mmy/myad131. PMID: 38935912Free PMC Article
Screening for Bacterial Vaginosis in Pregnant Adolescents and Women to Prevent Preterm Delivery: Updated Evidence Report and Systematic Review for the US Preventive Services Task Force.
Kahwati LC, Clark R, Berkman N, Urrutia R, Patel SV, Zeng J, Viswanathan M
JAMA 2020 Apr 7;323(13):1293-1309. doi: 10.1001/jama.2020.0233. PMID: 32259235

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