Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Familial candidiasis

Familial candidiasis 1 is an autosomal dominant or recessive disorder of susceptibility to cadida infections. Sometimes we know the gene and understand the underlying pathogenetic mechanisms in some cases however we only know the genomic location.

Systematic

Disposition to infections
Disorders of mRNA editing
Familial candidiasis
CLEC6A
Familial candidiasis 2
CARD9
Familial candidiasis 3
Familial candidiasis 4
CLEC7A
Familial candidiasis 5
IL17RA
Familial candidiasis 6
IL17F
Familial candidiasis 8
TRAF3IP2
Familial candidiasis 9
IL17RC
Genetic susceptibility to aspergillosis
HIV resistance
IRAK4 deficiency
Invasive pneumococcal disease
Measles infection susceptibility
Meningococcal infection susceptibility
Resistance to trypanosoma brucei
Septic shock
Susceptibility to bacteremia 1
Susceptibility to malaria
Susceptibility to mycobacterial diseases
Susceptibility to pseudomonas infection
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency

References:

1.

Lanternier F et al. (2013) Deep dermatophytosis and inherited CARD9 deficiency.

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2.

Hartono SP et al. (2018) Novel STAT1 Gain-of-Function Mutation Presenting as Combined Immunodeficiency.

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3.

Mangino M et al. (2003) A gene for familial isolated chronic nail candidiasis maps to chromosome 11p12-q12.1.

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4.

Germain M et al. (1994) Case report: familial chronic mucocutaneous candidiasis complicated by deep candida infection.

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5.

Ee HL et al. (2005) Autosomal dominant familial chronic mucocutaneous candidiasis associated with acne rosacea.

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6.

Zuccarello D et al. (2002) Familial chronic nail candidiasis with ICAM-1 deficiency: a new form of chronic mucocutaneous candidiasis.

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7.

Atkinson TP et al. (2001) An immune defect causing dominant chronic mucocutaneous candidiasis and thyroid disease maps to chromosome 2p in a single family.

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8.

Loeys BL et al. (1999) Fungal intracranial aneurysm in a child with familial chronic mucocutaneous candidiasis.

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9.

Zimmermann-Belsing T et al. (1994) Riedel's thyroiditis: an autoimmune or primary fibrotic disease?

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10.

Jorizzo JL et al. (1980) Cimetidine as an immunomodulator: chronic mucocutaneous candidiasis as a model.

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11.

Montes LF et al. (1971) Prolonged oral treatment of chronic mucocutaneous candidiasis with Amphotericin B.

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12.

Wells RS et al. (1972) Familial chronic muco-cutaneous candidiasis.

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13.

Canales L et al. (1969) Immunological observations in chronic mucocutaneous candidiasis.

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14.

Sams WM et al. (1979) Chronic mucocutaneous candidiasis. Immunologic studies of three generations of a single family.

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15.

Ling Y et al. (2015) Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis.

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16.

Ho AW et al. (2010) IL-17RC is required for immune signaling via an extended SEF/IL-17R signaling domain in the cytoplasmic tail.

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17.

van de Veerdonk FL et al. (2011) STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis.

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18.

Drewniak A et al. (2013) Invasive fungal infection and impaired neutrophil killing in human CARD9 deficiency.

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19.

Boudghène-Stambouli O et al. (1998) [Dermatophytic disease: exuberant hyperkeratosis with cutaneous horns].

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20.

Boisson B et al. (2013) An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis.

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21.

Ferwerda B et al. (2009) Human dectin-1 deficiency and mucocutaneous fungal infections.

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22.

Glocker EO et al. (2009) A homozygous CARD9 mutation in a family with susceptibility to fungal infections.

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23.

Lévy R et al. (2016) Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency.

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24.

Puel A et al. (2011) Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity.

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25.

Kudva A et al. (2011) Influenza A inhibits Th17-mediated host defense against bacterial pneumonia in mice.

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26.

Tan W et al. (2006) IL-17 receptor knockout mice have enhanced myelotoxicity and impaired hemopoietic recovery following gamma irradiation.

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27.

Yamazaki Y et al. (2014) Two novel gain-of-function mutations of STAT1 responsible for chronic mucocutaneous candidiasis disease: impaired production of IL-17A and IL-22, and the presence of anti-IL-17F autoantibody.

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28.

Soltész B et al. (2013) New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe.

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29.

Sampaio EP et al. (2013) Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis.

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30.

Uzel G et al. (2013) Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome.

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31.

Smeekens SP et al. (2011) STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant chronic mucocutaneous candidiasis.

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32.

Liu L et al. (2011) Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.

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Update: June 23, 2025
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