Overview
Autosomal systemic lupus erythematosus (also called monogenic lupus or Mendelian lupus) is a rare genetic form of systemic lupus erythematosus (SLE) that is caused by a single gene mutation inherited from one or both parents. Unlike the more common form of lupus, which results from a complex mix of many genes and environmental factors, this type follows a clear inheritance pattern and often begins in childhood or early adolescence. In this condition, the immune system mistakenly attacks the body's own healthy tissues, causing widespread inflammation. This can affect many organs including the skin, joints, kidneys, blood cells, brain, heart, and lungs. Common symptoms include skin rashes (especially a butterfly-shaped rash across the cheeks), joint pain and swelling, extreme fatigue, fevers, mouth sores, hair loss, and kidney problems. Because the disease can affect so many parts of the body, it is considered a multi-system autoimmune disorder. Treatment focuses on controlling the overactive immune system and managing symptoms. Medications may include hydroxychloroquine, corticosteroids, and stronger immunosuppressive drugs such as mycophenolate mofetil, azathioprine, or biologics like belimumab. Because this form of lupus is driven by specific genetic defects, some patients may respond to targeted therapies depending on the gene involved. Early diagnosis through genetic testing is important because it can guide treatment choices and help predict disease course. Patients typically need lifelong monitoring and care from multiple specialists.
Also known as:
Key symptoms:
Butterfly-shaped rash across the cheeks and noseJoint pain and swellingExtreme tiredness and fatigueRecurring feversMouth or nose soresHair lossKidney problems including protein in the urineSensitivity to sunlight causing skin rashesSwollen lymph nodesChest pain when breathing deeplyFingers turning white or blue in the cold (Raynaud's phenomenon)Low blood cell counts (anemia, low white cells, low platelets)Seizures or other brain-related symptomsSkin lesions that worsen with sun exposureChilblain-like skin lesions on fingers and toes
Variable
Can be inherited in different ways depending on the underlying gene
Childhood
Begins in childhood, roughly ages 1 to 12
FDA & Trial Timeline
1 eventData sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Autosomal systemic lupus erythematosus.
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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 Autosomal systemic lupus erythematosus.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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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 lupus, and how does it affect my treatment options?,Which organs are currently affected, and how will you monitor them over time?,What medications do you recommend, and what are their potential side effects?,Should my family members be tested for this genetic mutation?,Are there any clinical trials or new treatments that might be appropriate for my specific type of lupus?,What signs of a flare should I watch for, and when should I seek emergency care?,How can I protect myself from sun exposure and infections while on treatment?
Common questions about Autosomal systemic lupus erythematosus
What is Autosomal systemic lupus erythematosus?
Autosomal systemic lupus erythematosus (also called monogenic lupus or Mendelian lupus) is a rare genetic form of systemic lupus erythematosus (SLE) that is caused by a single gene mutation inherited from one or both parents. Unlike the more common form of lupus, which results from a complex mix of many genes and environmental factors, this type follows a clear inheritance pattern and often begins in childhood or early adolescence. In this condition, the immune system mistakenly attacks the body's own healthy tissues, causing widespread inflammation. This can affect many organs including the
At what age does Autosomal systemic lupus erythematosus typically begin?
Typical onset of Autosomal systemic lupus erythematosus is childhood. Age of onset can vary across affected individuals.
Which specialists treat Autosomal systemic lupus erythematosus?
1 specialists and care centers treating Autosomal systemic lupus erythematosus are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.