Table 2. Variable penetrance of adults... | Rockefeller University Press

Table 2.

Variable penetrance of adults carrying STING gain-of-function mutations

Patient	1	2	3	4	5	6
STING variant	R281Q	R281Q	R281Q	V155M	V155M	V155M
STING AQ	Unknown	AQ/Q	AQ/WT	WT/WT	AQ/AQ	AQ/WT
Age of onset	19	NA	NA	30	30	NA
Age at last follow-up	44	59	67	45	47	24
Cutaneous vasculopathy	Yes	No	No	No	No	No
Interstitial lung disease	No	No	No	Yes	No	No
Inflammatory arthritis	Yes	No	No	Yes	No	No
CNS inflammation	No	No	No	No	Yes	No

Patient	1	2	3	4	5	6
STING variant	R281Q	R281Q	R281Q	V155M	V155M	V155M
STING AQ	Unknown	AQ/Q	AQ/WT	WT/WT	AQ/AQ	AQ/WT
Age of onset	19	NA	NA	30	30	NA
Age at last follow-up	44	59	67	45	47	24
Cutaneous vasculopathy	Yes	No	No	No	No	No
Interstitial lung disease	No	No	No	Yes	No	No
Inflammatory arthritis	Yes	No	No	Yes	No	No
CNS inflammation	No	No	No	No	Yes	No

Clinical and genetic characteristics of the six identified individuals with pathogenic STING1 variants. NA, not available.

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