Associated Papers
USP18 Deficiency Presenting as Severe Neonatal Encephalopathy: A Case Report and Review of Pseudo-TORCH Syndromes.
Alattas A et al.
Cureus, 2025
Aicardi-Goutières syndrome type 6: report of ADAR variant and clinical outcome after ruxolitinib treatment in the neonatal period.
Gabaldon-Albero A et al.
Pediatric Rheumatology Online Journal, 2024
Human Disease Phenotypes Associated with Loss and Gain of Function Mutations in STAT2: Viral Susceptibility and Type I Interferonopathy.
Duncan CJA et al.
Journal of Clinical Immunology, 2021
JAK Inhibitor Therapy in a Child with Inherited USP18 Deficiency.
Alsohime F et al.
The New England Journal of Medicine, 2020
A Novel Familial Case Report of Genetic Syndrome Mimicking Congenital TORCH infections; Pseudo-TORCH Syndrome 2.
Sehrish I et al.
Journal of Reproduction & Infertility, 0
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