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

CARD9 gene

The CARD9 gene encodes a protein, caspase recruitment domain-containing protein 9, that is in volved in apoptosis and innate immunity. Mutations cause autosomal recessive candidiasis 2.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Familial candidiasis 2
CARD9

References:

1.

Gross O et al. (2006) Card9 controls a non-TLR signalling pathway for innate anti-fungal immunity.

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2.

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

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3.

Bertin J et al. (2001) CARD11 and CARD14 are novel caspase recruitment domain (CARD)/membrane-associated guanylate kinase (MAGUK) family members that interact with BCL10 and activate NF-kappa B.

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4.

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

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5.

Bertin J et al. (2000) CARD9 is a novel caspase recruitment domain-containing protein that interacts with BCL10/CLAP and activates NF-kappa B.

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6.

Hsu YM et al. (2007) The adaptor protein CARD9 is required for innate immune responses to intracellular pathogens.

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7.

Yang H et al. (2007) pVHL acts as an adaptor to promote the inhibitory phosphorylation of the NF-kappaB agonist Card9 by CK2.

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8.

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

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9.

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

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10.

Cao Z et al. (2015) Ubiquitin Ligase TRIM62 Regulates CARD9-Mediated Anti-fungal Immunity and Intestinal Inflammation.

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Update: Aug. 14, 2020
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