Overview
Mixed autoinflammatory and autoimmune syndrome is a rare condition where the immune system is overactive in two distinct ways at the same time. In autoinflammatory disease, the innate (first-line) immune system triggers inflammation without a clear outside threat. In autoimmune disease, the adaptive immune system mistakenly attacks the body's own healthy tissues. When both of these problems occur together, patients can experience a wide range of symptoms including recurrent fevers, skin rashes, joint pain and swelling, enlarged lymph nodes, and damage to various organs. Blood tests often show signs of both systemic inflammation and autoimmune antibodies. This syndrome can affect multiple organ systems, including the skin, joints, blood cells, and internal organs such as the kidneys and liver. Because the immune system is dysregulated in more than one way, patients may have symptoms that overlap with conditions like lupus, familial Mediterranean fever, or other periodic fever syndromes. The severity can vary widely from person to person. Treatment typically focuses on controlling the overactive immune response. Doctors may use anti-inflammatory medications, immunosuppressive drugs, or targeted biologic therapies depending on which parts of the immune system are most affected. Because this is a complex condition, care usually involves a team of specialists. Research is ongoing to better understand the genetic causes and to develop more targeted treatments.
Key symptoms:
Recurrent fevers without infectionSkin rashesJoint pain and swellingEnlarged lymph nodesFatigueMouth sores or ulcersLow blood cell counts (anemia or low platelets)Kidney problemsLiver inflammationAutoimmune blood disordersMuscle achesAbdominal painEye inflammationWeight loss or poor growth in children
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Mixed autoinflammatory and autoimmune syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Mixed autoinflammatory and autoimmune syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Rare Disease Specialist
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 Mixed autoinflammatory and autoimmune syndrome.
Community
No community posts yet. Be the first to share your experience with Mixed autoinflammatory and autoimmune syndrome.
Start the conversation →Latest news about Mixed autoinflammatory and autoimmune syndrome
No recent news articles for Mixed autoinflammatory and autoimmune syndrome.
Follow this condition to be notified when news becomes available.
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 type of immune dysregulation does my child or I have, and is genetic testing recommended?,Which organs are currently affected, and how will you monitor for new organ involvement?,What medications do you recommend, and what are the potential side effects?,How often will I need blood tests and follow-up appointments?,Are there any clinical trials or new treatments I should know about?,What signs should prompt me to go to the emergency room?,Should my family members be tested for this condition?
Common questions about Mixed autoinflammatory and autoimmune syndrome
What is Mixed autoinflammatory and autoimmune syndrome?
Mixed autoinflammatory and autoimmune syndrome is a rare condition where the immune system is overactive in two distinct ways at the same time. In autoinflammatory disease, the innate (first-line) immune system triggers inflammation without a clear outside threat. In autoimmune disease, the adaptive immune system mistakenly attacks the body's own healthy tissues. When both of these problems occur together, patients can experience a wide range of symptoms including recurrent fevers, skin rashes, joint pain and swelling, enlarged lymph nodes, and damage to various organs. Blood tests often show
Which specialists treat Mixed autoinflammatory and autoimmune syndrome?
2 specialists and care centers treating Mixed autoinflammatory and autoimmune syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.