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GTR Home > Conditions/Phenotypes > Predisposition to invasive fungal disease due to CARD9 deficiency

Predisposition to invasive fungal disease due to CARD9 deficiency

Synonyms
CARD9 IMMUNODEFICIENCY; Candidiasis, familial, 2; Candidiasis, familial, 2, autosomal recessive; IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

A rare genetic primary immunodeficiency with characteristics of increased susceptibility to fungal infections that typically manifest as recurrent, chronic mucocutaneous candidiasis, systemic candidiasis with meningoencephalitis and deep dermatophytosis. Dermatophytes invade skin, hair, nails, lymph nodes and brain, resulting in erythematosquamous lesions, nodular subcutaneous or ulcerative infiltrations, severe onychomycosis and lymphadenopathy. [from SNOMEDCT_US]

Available tests

15 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (15 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CANDF2, IMD103, hCARD9, CARD9
    Summary: caspase recruitment domain family member 9

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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