Name: Pseudo-TORCH syndrome 3 | Acronym: PTORCH3
Alt. names: STAT2-LOF

Gene: STAT2 | MOI: Autosomal recessive | Mechanism of action: Loss of Function

No. of cases in DB: 0 | First reported in: 2019

Last updated on: 2023-02-28 16:41:18 by Andrés Caballero-Oteyza

OMIM: 618886

Orphanet: -

MONDO: -

DOID: -

ClinGen:

Disorder of immune dysregulation and neuroinflammation apparent from early infancy. Affected individuals have developmental delay with acute episodes of fever and multisystemic organ involvement, including coagulopathy, elevated liver enzymes, and proteinuria, often associated with thrombotic microangiopathy. Brain imaging shows progressive intracranial calcifications, white matter abnormalities, and sometimes cerebral or cerebellar atrophy. Laboratory studies show abnormal elevation of interferon (IFN)-stimulated gene (ISG) transcripts consistent with a type I interferonopathy. The phenotype resembles the sequelae of intrauterine infection, but there is usually no evidence of an infectious agent. The disorder results from defects in negative regulation of the interferon immunologic pathway. Death in early childhood is common (summary by Duncan et al., 2019 and Gruber et al., 2020).[OMIM]

Description of management option has not been reviewed yet.