Predisposition to invasive fungal disease

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Predisposition to invasive fungal disease due to CARD9 deficiency

ORPHA:457088Disease

Also called Invasive candidiasis-deep dermatophytosis syndrome

What it is

A rare, genetic primary immunodeficiency characterized by increased susceptibility to fungal infections, typically manifesting as recurrent, chronic mucocutaneous candidiasis, systemic candidiasis with meningoencephalitis, and deep dermatophystosis with dermatophytes invading skin, hair, nails, lymph nodes, and brain, resulting in erythematosquamous lesions, nodular subcutaneous or ulcerative infiltrations, severe onychomycosis, and lymphadenopathy.

Key facts

Inheritance
Autosomal recessive
Classified as
Disease

Gene

CARD9Disease-causing germline mutation(s)

ICD-10 codes

D84.8filed under a broader ICD-10 category — shared with 39 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Cross-references

MEDDRA 10083959MONDO 0008905OMIM 212050UMLS C1859353

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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