Candidiasis, Familial, 8; Candf8

Description

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 (OMIM ).

Clinical Features

Phenotypes and symptoms related to Candidiasis, Familial, 8; Candf8

  • Macroglossia
  • Inflammatory abnormality of the skin
  • Recurrent skin infections
  • Psoriasiform dermatitis
  • Blepharitis
  • Chronic mucocutaneous candidiasis
  • Seborrheic dermatitis
  • Folliculitis
  • Onychomycosis

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Candidiasis, Familial, 8; Candf8 Is also known as candidiasis, familial chronic mucocutaneous, autosomal recessive.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Candidiasis, Familial, 8; Candf8 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Candidiasis, familial 8 (sequence analysis of TRAF3IP2 gene).

By CGC Genetics (Portugal).

TRAF3IP2
Specificity
100 %
Genes
100 %
Candidiasis, familial (NGS panel for 5 genes).

By CGC Genetics (Portugal).

TRAF3IP2, CLEC7A, CARD9, IL17F, IL17RA
Specificity
20 %
Genes
100 %
Defects in innate immunity Panel.

By CeGaT GmbH (Germany).

STAT1, TBK1, TLR3, TRAF3, TRAF3IP2, UNC93B1, CARD9, IL17F, TIRAP, IRAK4, TMC6, TICAM1, TMC8, CXCR4, IL17RA, APOL1, MCM4, MYD88, NFKBIA
Specificity
6 %
Genes
100 %
Invitae Chronic Mucocutaneous Candidiasis Panel.

By Invitae (United States).

TRAF3IP2, IL17F, IL17RC, IL17RA
Specificity
25 %
Genes
100 %
Invitae Primary Immunodeficiency Panel.

By Invitae (United States).

RMRP, RORC, SEMA3E, SH2D1A, SH3BP2, SLC7A7, SMARCAL1, BTK, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, STX11, STXBP2, TAPBP, TAZ, TBK1, TCN2 , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
100 %
TRAF3IP2.

By Fulgent Genetics Fulgent Genetics (United States).

TRAF3IP2
Specificity
100 %
Genes
100 %
Primary Immunodeficiency Panel.

By Blueprint Genetics (Finland).

RMRP, RORC, CFB, BLM, SH2D1A, SLC7A7, SMARCAL1, SMARCD2, SRP72, BTK, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, STX11, STXBP2, TAPBP, TBX1 , (...)

View the complete list with 253 more genes
Specificity
1 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. (United States).

BCL6, RHEB, RIPK1, RIPK2, RIPK3, RIT1, BCL7A, BCL9, BCR, ROBO2, ROCK1, ROCK2, ROR1, ROR2, ROS1, RPA1, BDNF, RPL5, RPN1, RPS6KB1 , (...)

View the complete list with 1627 more genes
Specificity
1 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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