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Candidiasis, familial, 8(CANDF8)

MedGen UID:: 811541
•Concept ID:: C3714992
•: Disease or Syndrome

Synonym:	CANDF8

Gene (location): Gene(s) directly associated with this condition or phenotype.	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.

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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.

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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.

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Cheilitis

MedGen UID:: 3349
•Concept ID:: C0007971
•: Disease or Syndrome

Inflammation of the lip.

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Macroglossia

MedGen UID:: 44236
•Concept ID:: C0024421
•: Disease or Syndrome

Increased length and width of the tongue.

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Abnormality of head or neck
- Cheilitis
- Macroglossia
Abnormality of the immune system

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: 36584109 Free 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: 32557834 Free PMC Article

Molecular background and genotype-phenotype correlation in autoimmune-polyendocrinopathy-candidiasis-ectodermal-distrophy patients from Campania and in their relatives.

Capalbo D, Mazza C, Giordano R, Improda N, Arvat E, Cervato S, Morlin L, Pignata C, Betterle C, Salerno M
J Endocrinol Invest 2012 Feb;35(2):169-73. Epub 2011 Apr 20 doi: 10.3275/7677. PMID: 21508664

See all (10)

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

Immunological Evaluation of Pediatric Patients with Polyautoimmunity.

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

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

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: 26951573 Free PMC Article

Paediatric HIV infection.

Friesen H
P N G Med J 1996 Sep;39(3):183-9. PMID: 9795560

See all (96)

Diagnosis

Immunological Evaluation of Pediatric Patients with Polyautoimmunity.

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: 36701339 Free PMC Article

Multicenter Prospective Study of Biomarkers for Diagnosis of Invasive Candidiasis in Children and Adolescents.

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: 35134165 Free 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

Paediatric HIV infection.

Friesen H
P N G Med J 1996 Sep;39(3):183-9. PMID: 9795560

See all (88)

Therapy

Immunophenotyping and Therapeutic Insights from Chronic Mucocutaneous Candidiasis Cases with STAT1 Gain-of-Function Mutations.

Lei WT, Lo YF, Tsumura M, Ding JY, Lo CC, Lin YN, Wang CW, Liu LH, Shih HP, Peng JJ, Wu TY, Chan YP, Kang CX, Wang SY, Kuo CY, Tu KH, Yeh CF, Hsieh YJ, Asano T, Chung WH, Okada S, Ku CL
J Clin Immunol 2024 Aug 23;44(8):184. doi: 10.1007/s10875-024-01776-9. PMID: 39177867

Lactobacillus probiotics restore vaginal and gut microbiota of pregnant women with vaginal candidiasis.

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.

Nipple pain, damage, and vasospasm in the first 8 weeks postpartum.

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: 24380583 Free PMC Article

Paediatric HIV infection.

Friesen H
P N G Med J 1996 Sep;39(3):183-9. PMID: 9795560

See all (60)

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

Multicenter Prospective Study of Biomarkers for Diagnosis of Invasive Candidiasis in Children and Adolescents.

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.

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

Paediatric HIV infection.

Friesen H
P N G Med J 1996 Sep;39(3):183-9. PMID: 9795560

See all (54)

Clinical prediction guides

Scoping review of cytolytic vaginosis literature.

Multicenter Prospective Study of Biomarkers for Diagnosis of Invasive Candidiasis in Children and Adolescents.

Cytometric analysis and clinical features in a Moroccan cohort with severe combined immunodeficiency.

El Allam A, El Fakihi S, Tahoune H, Sahmoudi K, Bousserhane H, Bakri Y, El Hafidi N, Seghrouchni F
Hum Antibodies 2022;30(2):67-77. doi: 10.3233/HAB-211510. PMID: 35094990

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

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: 4516211 Free PMC Article

See all (56)

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: 38935912 Free 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: 38782481 Free 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.

See all (4)

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Candidiasis, familial, 8(CANDF8)

Definition

Clinical features

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

Related information

Recent activity