期刊
JOURNAL OF CLINICAL IMMUNOLOGY
卷 41, 期 7, 页码 1446-1456出版社
SPRINGER/PLENUM PUBLISHERS
DOI: 10.1007/s10875-021-01118-z
关键词
Signal transducer and activator of transcription 2; antiviral immunity; type I interferonopathies; inborn errors of immunity; type I interferon; interferon-alpha; beta; lambda
类别
资金
- Wellcome Trust [211153/Z/18/Z, 207556/Z/17/Z]
- Sir Jules Thorn Trust [12/JTA]
- British Medical Association
- Wellcome Trust [207556/Z/17/Z, 211153/Z/18/Z] Funding Source: Wellcome Trust
STAT2 is unique among the STAT family members in its involvement exclusively in type I and III interferon signaling pathways, acting as both a positive and negative regulator of IFN-I signaling. Opposing functions of STAT2 in monogenic diseases are evident, with autosomal recessive STAT2 deficiency leading to heightened susceptibility to severe viral diseases and homozygous missense substitutions causing severe type I interferonopathy.
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.
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