Human Disease Phenotypes Associated with Loss and Gain of Function Mutations in STAT2: Viral Susceptibility and 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...

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Autores principales: Duncan, Christopher James Arthur, Hambleton, Sophie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2021
Materias:
CME Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8390117/
https://www.ncbi.nlm.nih.gov/pubmed/34448086
http://dx.doi.org/10.1007/s10875-021-01118-z
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author Duncan, Christopher James Arthur
Hambleton, Sophie
author_facet Duncan, Christopher James Arthur
Hambleton, Sophie
author_sort Duncan, Christopher James Arthur
collection PubMed
description 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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spelling pubmed-83901172021-08-27 Human Disease Phenotypes Associated with Loss and Gain of Function Mutations in STAT2: Viral Susceptibility and Type I Interferonopathy Duncan, Christopher James Arthur Hambleton, Sophie J Clin Immunol CME Review 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. Springer US 2021-08-26 2021 /pmc/articles/PMC8390117/ /pubmed/34448086 http://dx.doi.org/10.1007/s10875-021-01118-z Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle CME Review
Duncan, Christopher James Arthur
Hambleton, Sophie
Human Disease Phenotypes Associated with Loss and Gain of Function Mutations in STAT2: Viral Susceptibility and Type I Interferonopathy
title Human Disease Phenotypes Associated with Loss and Gain of Function Mutations in STAT2: Viral Susceptibility and Type I Interferonopathy
title_full Human Disease Phenotypes Associated with Loss and Gain of Function Mutations in STAT2: Viral Susceptibility and Type I Interferonopathy
title_fullStr Human Disease Phenotypes Associated with Loss and Gain of Function Mutations in STAT2: Viral Susceptibility and Type I Interferonopathy
title_full_unstemmed Human Disease Phenotypes Associated with Loss and Gain of Function Mutations in STAT2: Viral Susceptibility and Type I Interferonopathy
title_short Human Disease Phenotypes Associated with Loss and Gain of Function Mutations in STAT2: Viral Susceptibility and Type I Interferonopathy
title_sort human disease phenotypes associated with loss and gain of function mutations in stat2: viral susceptibility and type i interferonopathy
topic CME Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8390117/
https://www.ncbi.nlm.nih.gov/pubmed/34448086
http://dx.doi.org/10.1007/s10875-021-01118-z
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