Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Familiäre Candidose

Genetisch bedingte Candidose autosomal dominant oder rezessiv vererbte Anfälligkeiten für Candida Infektionen. Für einige dieser Erkrankungen kennen wir schon sehr genau die Gene und verstehen die zugrundeliegenden Pathomechanismen, bei anderen sind nur die etwaige genomische Lokalisation bekannt.

Gliederung

Erbliche Infektionsanfälligkeiten
Aspergillose-Infektionsanfälligkeit
Familiäre Candidose
CLEC6A
Familiäre Candidose 1
Familiäre Candidose 2
CARD9
Familiäre Candidose 3
Familiäre Candidose 4
CLEC7A
Familiäre Candidose 5
IL17RA
Familiäre Candidose 6
IL17F
Familiäre Candidose 8
TRAF3IP2
HIV-Resistenz
IRAK4-Mangel
Invasive Pneumokokken-Erkrankung
Masern-Infektanfälligkeit
Meningokokken-Infektanfälligkeit
Resistenz gegenüber Trypanosoma brucei
Septischer Schock
Störungen der mRNA-Editiertfunktion
Suszeptibilität für Bakteriämie 1
Suszeptibilität für Malaria
Suszeptibilität für Mykobakteriosen
Suszeptibilität für Pseudomonas-Infektionen
X-chromosomale Suszeptibilität für Mykobakteriosen durch IKBKG-Defekt

Referenzen:

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: 14. August 2020
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