immune dysregulation syndrome
Group of primary immunodeficiencies characterized by autoimmunity, autoinflammation, and atopy due to defective immune regulation.
Full Definition
Immune dysregulation syndromes comprise a heterogeneous group of primary immunodeficiencies characterized by loss of immune homeostasis, leading to autoimmunity, autoinflammation, allergic disease, and sometimes immunodeficiency. These disorders result from defects in regulatory mechanisms that normally maintain self-tolerance and prevent excessive immune responses. Examples include IPEX syndrome (due to FOXP3 mutations affecting regulatory T-cells), ALPS (affecting lymphocyte apoptosis), and DOCK8 deficiency. Patients typically present with multiple autoimmune manifestations, severe allergies, chronic inflammation, and may have increased infection susceptibility despite immune hyperactivation.
Usage
Usage note: Encompasses various conditions with defective immune regulation; treatment often requires immunosuppression.
In Context
- "The combination of severe eczema, autoimmune enteropathy, and diabetes suggested an underlying immune dysregulation syndrome." — Clinical consultation
- "Genetic testing revealed FOXP3 mutation confirming IPEX, a severe immune dysregulation syndrome." — Genetics report