Overview
Predisposition to invasive fungal disease due to CARD9 deficiency is a rare inherited immune disorder that makes a person highly vulnerable to serious fungal infections. CARD9 is a protein that plays a key role in how your immune system recognizes and fights off fungi. When both copies of the CARD9 gene are not working properly, the body's white blood cells — especially certain immune cells called neutrophils and macrophages — cannot mount an effective defense against fungal organisms. As a result, people with this condition can develop deep, invasive fungal infections that affect the skin, brain, bones, and other organs. Common fungal organisms involved include Candida species (causing deep-seated candidiasis), dermatophytes (causing widespread skin and deep tissue infections), and other fungi such as Exophiala, Phialophora, and Corynespora. Symptoms vary depending on which fungus is involved and which organs are affected, but can include chronic skin infections, brain abscesses, bone infections, and recurrent vaginal yeast infections. The condition typically becomes apparent in childhood or young adulthood. Treatment relies on long-term antifungal medications such as fluconazole, voriconazole, amphotericin B, or other antifungals, often given for extended periods or even lifelong to prevent recurrence. In some severe cases, bone marrow transplantation has been considered as a potential curative approach. Early diagnosis and prompt antifungal treatment are critical to preventing life-threatening complications.
Also known as:
Key symptoms:
Deep or widespread skin fungal infections that do not respond to usual treatmentsBrain abscess caused by fungal infectionChronic or recurrent vaginal yeast infectionsFungal infection of the bones (osteomyelitis)Fungal meningitis (infection of the membranes around the brain)Persistent nail fungal infections that spread deeplySwollen lymph nodes due to fungal infectionSkin lumps or nodules that drain or ulcerateRecurrent oral thrush (white patches in the mouth)Fever that does not go away with standard antibioticsFatigue and general feeling of being unwellFungal infection spreading to internal organsChronic diarrhea or abdominal pain from gut fungal infection
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Predisposition to invasive fungal disease due to CARD9 deficiency.
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Specialists
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Predisposition to invasive fungal disease due to CARD9 deficiency.
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Caregiver Resources
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Social Security Disability
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Questions for your doctor
Bring these to your next appointment
- Q1.What specific CARD9 mutation does my child or I have, and does it affect the expected severity of the disease?,Which antifungal medication is best for my situation, and how long will I need to take it?,What side effects should I watch for with long-term antifungal therapy?,Should my family members be tested for CARD9 mutations, even if they seem healthy?,Is bone marrow transplantation an option in my case, and what are the risks and benefits?,Are there specific environments or activities I should avoid to reduce my risk of fungal exposure?,How often should I have follow-up imaging or blood tests to monitor for new infections?
Common questions about Predisposition to invasive fungal disease due to CARD9 deficiency
What is Predisposition to invasive fungal disease due to CARD9 deficiency?
Predisposition to invasive fungal disease due to CARD9 deficiency is a rare inherited immune disorder that makes a person highly vulnerable to serious fungal infections. CARD9 is a protein that plays a key role in how your immune system recognizes and fights off fungi. When both copies of the CARD9 gene are not working properly, the body's white blood cells — especially certain immune cells called neutrophils and macrophages — cannot mount an effective defense against fungal organisms. As a result, people with this condition can develop deep, invasive fungal infections that affect the skin, br
How is Predisposition to invasive fungal disease due to CARD9 deficiency inherited?
Predisposition to invasive fungal disease due to CARD9 deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.