Human Disease Phenotypes Associated with Loss and Gain of Function Mutations in STAT2: Viral Susceptibility and Type I Interferonopathy.
J Clin Immunol
; 41(7): 1446-1456, 2021 10.
Article
in English
| MEDLINE | ID: covidwho-1453806
ABSTRACT
STAT2 is distinguished from other STAT family members by its exclusive involvement in type I and III interferon (IFN-I/III) signaling pathways, and its unique behavior as both positive and negative regulator of IFN-I signaling. The clinical relevance of these opposing STAT2 functions is exemplified by monogenic diseases of STAT2. Autosomal recessive STAT2 deficiency results in heightened susceptibility to severe and/or recurrent viral disease, whereas homozygous missense substitution of the STAT2-R148 residue is associated with severe type I interferonopathy due to loss of STAT2 negative regulation. Here we review the clinical presentation, pathogenesis, and management of these disorders of STAT2.
Keywords
Full text:
Available
Collection:
International databases
Database:
MEDLINE
Main subject:
Virus Diseases
/
Interferon Type I
/
STAT2 Transcription Factor
/
Genetic Diseases, Inborn
/
Immune System Diseases
Type of study:
Prognostic study
Limits:
Animals
/
Humans
Language:
English
Journal:
J Clin Immunol
Year:
2021
Document Type:
Article
Affiliation country:
S10875-021-01118-z
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