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Candidiasis, familial, 8(CANDF8)

MedGen UID:
811541
•Concept ID:
C3714992
•
Disease or Syndrome
Synonym: CANDF8
 
Gene (location): TRAF3IP2 (6q21)
 
Monarch Initiative: MONDO:0014230
OMIM®: 615527

Definition

Chronic mucocutaneous candidiasis is characterized by recurrent or persistent infections of the skin, nails, and oral and genital mucosae with Candida albicans, and sometimes by staphylococcal skin infections (summary by Boisson et al., 2013). For a discussion of genetic heterogeneity of familial candidiasis, see CANDF1 (114580). [from OMIM]

Clinical features

From HPO
Blepharitis
MedGen UID:
598
•Concept ID:
C0005741
•
Disease or Syndrome
Inflammation of the eyelids.
See: Feature record | Search on this feature
Seborrheic dermatitis
MedGen UID:
19912
•Concept ID:
C0036508
•
Disease or Syndrome
Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk.
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
Chronic oral candidiasis
MedGen UID:
870166
•Concept ID:
C4024599
•
Disease or Syndrome
Chronic accumulation and overgrowth of the fungus Candida albicans on the mucous membranes of the mouth, generally manifested as associated with creamy white lesions on the tongue or inner cheeks, occasionally spreading to the gums, tonsils, palate or oropharynx.
See: Feature record | Search on this feature
Cheilitis
MedGen UID:
3349
•Concept ID:
C0007971
•
Disease or Syndrome
Inflammation of the lip.
See: Feature record | Search on this feature
Macroglossia
MedGen UID:
44236
•Concept ID:
C0024421
•
Disease or Syndrome
Increased length and width of the tongue.
See: Feature record | Search on this feature
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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
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
APECED-Associated Hepatitis: Clinical, Biochemical, Histological and Treatment Data From a Large, Predominantly American Cohort.
Chascsa DM, Ferré EMN, Hadjiyannis Y, Alao H, Natarajan M, Quinones M, Kleiner DE, Simcox TL, Chitsaz E, Rose SR, Hallgren A, Kampe O, Marko J, Ali RO, Auh S, Koh C, Belkaid Y, Lionakis MS, Heller T
Hepatology 2021 Mar;73(3):1088-1104. doi: 10.1002/hep.31421. PMID: 32557834Free PMC Article

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
Lactobacillus probiotics restore vaginal and gut microbiota of pregnant women with vaginal candidiasis.
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
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
The "prescription-to-OTC switch" movement. Its effects on antifungal vaginitis preparations.
Lipsky MS, Waters T
Arch Fam Med 1999 Jul-Aug;8(4):297-300. doi: 10.1001/archfami.8.4.297. PMID: 10418534
Risk factors for Candida vulvovaginitis.
Reed BD
Obstet Gynecol Surv 1992 Aug;47(8):551-60. doi: 10.1097/00006254-199208000-00015. PMID: 1513528

Diagnosis

Recalcitrant extensive dermatophytosis in twin brothers with APECED syndrome.
Najeeb A, Gaurav V, Dudani P, Das S, Gupta S
Pediatr Dermatol 2025 Jan-Feb;42(1):145-149. Epub 2024 Sep 10 doi: 10.1111/pde.15736. PMID: 39256589
Scoping review of cytolytic vaginosis literature.
Kraut R, Carvallo FD, Golonka R, Campbell SM, Rehmani A, Babenko O, Lee MC, Vieira-Baptista P
PLoS One 2023;18(1):e0280954. Epub 2023 Jan 26 doi: 10.1371/journal.pone.0280954. PMID: 36701339Free 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
Minocycline-induced hyperpigmentation in patients with pemphigus and pemphigoid.
Ozog DM, Gogstetter DS, Scott G, Gaspari AA
Arch Dermatol 2000 Sep;136(9):1133-8. doi: 10.1001/archderm.136.9.1133. PMID: 10987869
Vaginal infections: diagnosis and management.
Reed BD, Eyler A
Am Fam Physician 1993 Jun;47(8):1805-1818. PMID: 8498288

Therapy

Recalcitrant extensive dermatophytosis in twin brothers with APECED syndrome.
Najeeb A, Gaurav V, Dudani P, Das S, Gupta S
Pediatr Dermatol 2025 Jan-Feb;42(1):145-149. Epub 2024 Sep 10 doi: 10.1111/pde.15736. PMID: 39256589
Lactobacillus probiotics restore vaginal and gut microbiota of pregnant women with vaginal candidiasis.
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
Genotyping and Drug Resistance Profile of Clinical Isolates of Candida albicans from Vulvovaginal Candidiasis in the Eastern China.
Hong N, Lei Y, Chen H, Chen X, Tsui KM, Hu D, Liao W, Yan L, Zhang H, Zhao R, Wu G, Yu N, Deng S
Mycopathologia 2022 Jun;187(2-3):217-224. Epub 2022 Jan 24 doi: 10.1007/s11046-022-00616-x. PMID: 35072854Free PMC Article
The "prescription-to-OTC switch" movement. Its effects on antifungal vaginitis preparations.
Lipsky MS, Waters T
Arch Fam Med 1999 Jul-Aug;8(4):297-300. doi: 10.1001/archfami.8.4.297. PMID: 10418534
Vaginal infections: diagnosis and management.
Reed BD, Eyler A
Am Fam Physician 1993 Jun;47(8):1805-1818. PMID: 8498288

Prognosis

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
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
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
Vaginal infections: diagnosis and management.
Reed BD, Eyler A
Am Fam Physician 1993 Jun;47(8):1805-1818. PMID: 8498288
Risk factors for Candida vulvovaginitis.
Reed BD
Obstet Gynecol Surv 1992 Aug;47(8):551-60. doi: 10.1097/00006254-199208000-00015. PMID: 1513528

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
Scoping review of cytolytic vaginosis literature.
Kraut R, Carvallo FD, Golonka R, Campbell SM, Rehmani A, Babenko O, Lee MC, Vieira-Baptista P
PLoS One 2023;18(1):e0280954. Epub 2023 Jan 26 doi: 10.1371/journal.pone.0280954. PMID: 36701339Free PMC Article
Evaluation of vaginal complaints.
Anderson MR, Klink K, Cohrssen A
JAMA 2004 Mar 17;291(11):1368-79. doi: 10.1001/jama.291.11.1368. PMID: 15026404
Risk factors for Candida vulvovaginitis.
Reed BD
Obstet Gynecol Surv 1992 Aug;47(8):551-60. doi: 10.1097/00006254-199208000-00015. PMID: 1513528
HL-A-linked human immune-response genes.
Buckley CE 3rd, Dorsey FC, Corley RB, Ralph WB, Woodbury MA, Amos DB
Proc Natl Acad Sci U S A 1973 Jul;70(7):2157-61. doi: 10.1073/pnas.70.7.2157. PMID: 4516211Free PMC Article

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
Swallowed topical steroid therapy for eosinophilic oesophagitis in children: practical, evidence-based guidance by the BSPGHAN Eosinophilic Oesophagitis Working Group.
Chan J, Flynn DM, Gordon M, Parmar R, Moolenschot K, Jackman L, Gaynor E, Epstein J, Cordell A, Kannappan H, Furman M, Thompson J, Gasparetto M, Auth MKH
BMJ Paediatr Open 2024 May 23;8(1) doi: 10.1136/bmjpo-2023-002467. PMID: 38782481Free 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
Incidence of Opportunistic Infections and the Impact of Antiretroviral Therapy Among HIV-Infected Adults in Low- and Middle-Income Countries: A Systematic Review and Meta-analysis.
Low A, Gavriilidis G, Larke N, B-Lajoie MR, Drouin O, Stover J, Muhe L, Easterbrook P
Clin Infect Dis 2016 Jun 15;62(12):1595-1603. Epub 2016 Mar 6 doi: 10.1093/cid/ciw125. PMID: 26951573Free PMC Article

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      Clinical tests in GTR
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      Related records in OMIM
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      OMIM records containing genes associated with phenotypes registered in MedGen
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