Details of Disease
General Information of Disease (ID: DISXXEWT)
| Disease Name | SAMHD1-related type 1 interferonopathy | ||||
|---|---|---|---|---|---|
| Definition |
Any type 1 interferonopathies in which the cause of the disease is a variation in the SAMHD1 gene. Individuals with variants in SAMHD1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome and chilblain lupus.
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