Table 1.

Characteristics of AGS affected individuals

Age of onset (median, range)	2 months (0–36 months)
Age at diagnosis (median, rang)	9 months (0–236 months)
Gender	male 9/19 and female (10/19)
Genotype	TREX1 (4/19)	21%
	RNASEH2A (1/19)	5.3%
	RNASEH2B (9/19)	47.3%
	RNASEH2C (1/19)	5.3%
	SAMHD1 (3/19)	15.7%
	IFIH1 (1/19)	5.3%
Presenting symptom	Developmental delay (7/19) or regression (4/19)	57.8%
	Seizures including infantile spasms (hypsarrythmia in 1 individual) (3/19)	15.8%
	Irritability (5/19)	26.3%
Additional disease features present in subsets of patients	Feeding impairment (7/19)	36.8%
	Sleep abnormalities (2/19)	10.5%
	Microcephaly (7/19)	36.8%
	Tone abnormalities (7/19)	36.8%
	Sterile pyrexia (3/19)	15.8%
	Hepatomegaly, hematochezia, excessive startle reactions, gait anomalies and easy fatigability were described in one individual each	5.3% each