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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

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
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

Recent clinical studies

Etiology

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
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
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: 35134165Free PMC Article

Diagnosis

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
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
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: 35134165Free 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

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
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
Longdan Xiegan decoction ameliorates vulvovaginal candidiasis by inhibiting the NLRP3 inflammasome via the Toll-like receptor /MyD88 pathway.
Feng X, Zhang H, Hu K, Shi G, Wu D, Shao J, Wang T, Wang C
J Ethnopharmacol 2024 Jan 10;318(Pt A):116869. Epub 2023 Jun 29 doi: 10.1016/j.jep.2023.116869. PMID: 37390876
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
Paediatric HIV infection.
Friesen H
P N G Med J 1996 Sep;39(3):183-9. PMID: 9795560

Prognosis

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
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.
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
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

Clinical prediction guides

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
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: 35134165Free 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
The leucocyte protein L1 (calprotectin): a putative nonspecific defence factor at epithelial surfaces.
Brandtzaeg P, Gabrielsen TO, Dale I, Müller F, Steinbakk M, Fagerhol MK
Adv Exp Med Biol 1995;371A:201-6. doi: 10.1007/978-1-4615-1941-6_41. PMID: 8525906
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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