Overview
Autoinflammatory syndrome with immune deficiency is a very rare genetic condition where the body's immune system does not work properly in two important ways. First, the immune system becomes overactive in ways that cause inflammation throughout the body, even when there is no infection to fight. This leads to recurring fevers, rashes, and swelling in various organs. Second, the immune system is also weakened in its ability to fight off real infections, meaning patients get sick more often and more severely from bacteria, viruses, and other germs. This condition typically begins in early childhood, often in infancy. Common symptoms include recurrent fevers that come and go without a clear cause, skin rashes, enlarged lymph nodes, liver or spleen enlargement, and frequent or unusual infections. Some patients may also experience joint pain, mouth sores, or problems with their digestive system. The severity can vary from person to person. Treatment usually focuses on controlling the inflammation and preventing infections. This may include medications that suppress the overactive parts of the immune system, antibiotics or antiviral drugs to treat and prevent infections, and sometimes immunoglobulin replacement therapy to boost the body's ability to fight germs. In some severe cases, bone marrow transplant (also called hematopoietic stem cell transplant) may be considered as a potentially curative option. Because this condition is so rare, care is best managed by a team of specialists experienced with immune disorders.
Key symptoms:
Recurring fevers without infectionSkin rashesFrequent or severe infectionsEnlarged liver or spleenSwollen lymph nodesJoint pain or swellingMouth sores or ulcersPoor growth or failure to thriveDigestive problems such as diarrheaFatigue and low energyInflammation in multiple organsLow blood cell counts
Variable
Can be inherited in different ways depending on the underlying gene
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Autoinflammatory syndrome with immune deficiency.
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View all trials with filters →No actively recruiting trials found for Autoinflammatory syndrome with immune deficiency at this time.
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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 Autoinflammatory syndrome with immune deficiency.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What specific gene mutation is causing my child's condition, and what does that mean for their health?,What treatments do you recommend to control the inflammation and prevent infections?,How often will my child need blood tests and medical checkups?,Is bone marrow transplant an option for my child, and what are the risks and benefits?,Are there any vaccines my child should avoid because of their immune deficiency?,What signs of infection or flare-up should prompt me to seek emergency care?,Are there clinical trials or research studies that my child might be eligible for?
Common questions about Autoinflammatory syndrome with immune deficiency
What is Autoinflammatory syndrome with immune deficiency?
Autoinflammatory syndrome with immune deficiency is a very rare genetic condition where the body's immune system does not work properly in two important ways. First, the immune system becomes overactive in ways that cause inflammation throughout the body, even when there is no infection to fight. This leads to recurring fevers, rashes, and swelling in various organs. Second, the immune system is also weakened in its ability to fight off real infections, meaning patients get sick more often and more severely from bacteria, viruses, and other germs. This condition typically begins in early chil
At what age does Autoinflammatory syndrome with immune deficiency typically begin?
Typical onset of Autoinflammatory syndrome with immune deficiency is infantile. Age of onset can vary across affected individuals.
Which specialists treat Autoinflammatory syndrome with immune deficiency?
2 specialists and care centers treating Autoinflammatory syndrome with immune deficiency are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.