Overview
Autoinflammation with PLCG2-associated antibody deficiency and immune dysregulation, often called APLAID, is an extremely rare genetic condition that affects the immune system in multiple ways. It is caused by a change (mutation) in the PLCG2 gene, which plays an important role in how immune cells communicate and respond to threats. In APLAID, the immune system is both overactive and underactive at the same time — it triggers too much inflammation in certain tissues while also failing to produce enough protective antibodies, leaving the body vulnerable to infections. People with APLAID typically experience recurrent skin blistering and rashes, eye inflammation (such as uveitis or conjunctivitis), joint pain, and frequent infections — especially of the lungs and sinuses. Some patients also develop inflammatory bowel symptoms, including abdominal pain and diarrhea. The condition can also cause granuloma-like skin lesions and problems with wound healing. Symptoms usually begin in infancy or early childhood and can vary in severity from person to person. Treatment for APLAID focuses on managing symptoms and preventing complications. This may include immunoglobulin replacement therapy to compensate for the antibody deficiency, anti-inflammatory medications, and sometimes immunosuppressive drugs. Because the disease affects multiple organ systems, patients typically need care from a team of specialists. Research into targeted therapies is ongoing, and some patients have been treated with medications that block specific inflammatory pathways.
Also known as:
Key symptoms:
Recurrent skin blistering and rashesEye inflammation (red, painful eyes)Frequent sinus and lung infectionsJoint pain and swellingAbdominal pain and diarrheaInflammatory bowel symptomsGranuloma-like skin nodulesPoor wound healingLow antibody levels in the bloodAllergic-type reactionsFever episodes without infectionSkin ulcersSensitivity to cold temperatures
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation.
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Specialists
View all specialists →No specialists are currently listed for Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation.
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 Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation.
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.How severe is my (or my child's) antibody deficiency, and will immunoglobulin replacement therapy be needed?,What signs of infection or inflammation should I watch for at home?,Are there any targeted therapies or clinical trials available for APLAID?,How often should we have eye exams to monitor for inflammation?,What vaccinations are safe, and which ones should be avoided?,How can we best manage skin symptoms and prevent scarring?,Should other family members be tested for the PLCG2 gene mutation?
Common questions about Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
What is Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation?
Autoinflammation with PLCG2-associated antibody deficiency and immune dysregulation, often called APLAID, is an extremely rare genetic condition that affects the immune system in multiple ways. It is caused by a change (mutation) in the PLCG2 gene, which plays an important role in how immune cells communicate and respond to threats. In APLAID, the immune system is both overactive and underactive at the same time — it triggers too much inflammation in certain tissues while also failing to produce enough protective antibodies, leaving the body vulnerable to infections. People with APLAID typica
How is Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation inherited?
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation typically begin?
Typical onset of Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation is infantile. Age of onset can vary across affected individuals.