Immune dysregulation diseases comprise a group of disorders that can trigger defective or uncontrolled immune responses and are characterized by autoimmunity, episodes of recurrent autoinflammation, dysregulation of lymphocyte homeostasis, or hypersensitivity reactions. These disorders are caused by distinct genetic defects, some of which can also cause immunodeficiency. Prevalence varies between 1:5,000 and 1:100,000 for some diseases. The complexity and symptom overlap makes genetic testing essential for the understanding of the disease, the diagnosis, and anticipation of disease behaviour and patient management.
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