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Up to: Hereditary disorder of connective tissue · Type 1 interferonopathy
SAMHD1-related type 1 interferonopathy
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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Aicardi-Goutieres syndrome 5 0 trials
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Chilblain lupus 2 0 trials