Living with Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
A rare genetic condition with blistering skin lesions, joint pain, eye and bowel inflammation, and repeated infections.
Understanding Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
It causes repeated blistering skin lesions, joint pain, eye inflammation, and inflammatory bowel disease. It also causes mild immunodeficiency, with repeated sinus and lung infections and low antibody levels. The inflammation is not triggered by cold temperatures. It starts in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Skin infections and skin redness
- Joint pain
- Repeated sinus and lung infections
- Inflammatory bowel disease (colitis)
- Cataracts and damage to the outer layer of the cornea
- Immune imbalance
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include autoimmune and inflammatory disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in PLCG2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in the PLCG2 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: aplaid; aplaid - autoinflammation phospholipase c gamma 2 associated antibody deficiency and immune dysregulation; autoinflammation phospholipase c gamma 2 associated antibody deficiency and immune dysregulation; autoinflammation, antibody deficiency, and immune dysregulation; autoinflammation, antibody deficiency, and immune dysregulation syndrome; autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation.
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