Pseudo-TORCH syndrome 2

Pseudo-TORCH syndrome 2 is an autoinflammatory disorder which is caused by autosmal recessive mutations of the USP18 gene. The disease starts antenatal and end lethal in infancy. Symptoms include intracranial hemorrhage, calcification, brain malformations, liver dysfunction, and occasionally thrombocytopenia

Epidemiology

The prevalence of all pseudo-TORCH syndromes is less than 1:1,000,000.

Systematic

Pseudo-TORCH-Syndrom
	Pseudo-TORCH syndrome 1
	Pseudo-TORCH syndrome 2
		USP18

References:

1.	Knoblauch H et al. (2003) Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome).

2.	Meuwissen ME et al. (2016) Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome.