Immune dysregulation disorders (IDD) [288 genes]

The immune system dysregulation diseases comprise a heterogeneous group of pathologies that can be triggered by defects in the adaptive or innate immune system that reduce its response by dysregulated immune responses, characterized by autoimmunity, recurrent episodes of autoinflammation, dysregulation of lymphocyte homeostasis or hypersensitivity reactions. These disorders can have a genetic etiology.

These types of diseases have a prevalence that varies between 1/5,000 and 1/100,000 for some diseases.

The complexity and symptomatic overlap of these diseases makes genetic testing a helpful test to rule out the genetic cause and make an accurate diagnosis of the disease if a clinically relevant finding is identified.

This is a global panel that includes both autoinflammatory diseases and genetically based autoimmune diseases and highly overlapping pathologies such as hemophagocytic lymphohistiocytosis. At the level of adaptive immunity, phenotypes related to T-cell regulation defects are included.