predisposition to invasive fungal disease due to CARD9 deficiency
MONDO:0008905Mondo
Findings
No curated finding names predisposition to invasive fungal disease due to CARD9 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Childhood onset · Early young adult onset
HPO, annotations 2026-09-02
Features
12 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Increased circulating IgE concentrationHPOHP:0003212
- 4 of 4 reported patients
- Severely increased total eosinophil countHPOHP:0032061
- 9 of 10 reported patients
- Deep dermatophytosisHPOHP:0032515
- 13 of 17 reported patients
- Decreased circulating iron concentrationHPOHP:0040303
- 10 of 14 reported patients
- Recurrent oral thrushHPOHP:0009098
- 6 of 17 reported patients
- Abnormal CD4+ T cell subset proportionHPOHP:0031392
- 0 of 17 reported patients
- Abnormal total B cell countHPOHP:0010975
- 0 of 17 reported patients
- Abnormal total CD8+ T cell numberHPOHP:0031393
- 0 of 17 reported patients
- Abnormal total natural killer cell countHPOHP:0040089
- 0 of 17 reported patients
- Chronic tinea infectionHPOHP:0032259
- LymphadenopathyHPOHP:0002716
- PhaeohyphomycosisHPOHP:6000031
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CARD9HGNC:16391
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: predisposition to invasive fungal disease due to CARD9 deficiency
- Also called
- candidiasis, familial, 2, autosomal recessivecandidiasis, familial, type 2invasive candidiasis-deep dermatophytosis syndrome