TREX1-related type 1 interferonopathy

TREX1-related type 1 interferonopathy is a condition that belongs to a group of disorders known as type 1 interferonopathies. This condition is caused by variations in the TREX1 gene, which leads to increased activity of type 1 interferons in the body. People with variations in the TREX1 gene can present with different clinical features. Some individuals may show signs of Aicardi-Goutieres syndrome, chilblain lupus, or retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations. This range of symptoms means that the condition can affect various parts of the body and present in different ways.

People with this condition may have a variety of symptoms. For example, some may experience features associated with Aicardi-Goutieres syndrome, chilblain lupus, or retinal vasculopathy with cerebral leukoencephalopathy. The specific symptoms often depend on which organs or systems are affected by the condition.

TREX1-related type 1 interferonopathy is caused by changes or variations in the TREX1 gene. This genetic change leads to increased activity of type 1 interferons, which can affect the body in different ways.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.