Abstract:
INTRODUCTION:The transcription factors signal transducer and activator of transcription (STAT) 1 and STAT3 fulfill fundamental functions in nonimmune and immune cells. The description and follow-up of patients with germline mutations that result in either loss-of-function or gain-of-function have contributed to our understanding of the pathophysiology of these regulators. Depending on the type of mutations, clinical symptoms are complex and can include infection susceptibility, immune dysregulation as well as characteristic nonimmune features. Areas covered: In this review, we provide an overview about mechanistic concepts, clinical manifestations, diagnostic process, and traditional as well as innovative treatment options aiming to help the clinical immunologist to better understand and manage these complex and rare diseases. Clinical and research papers were identified and summarized through PubMed Internet searches, and expert opinions are provided. Expert commentary: The last several years have seen an explosion in the clinical descriptions and pathogenesis knowledge of the diseases caused by GOF and LOF mutations in STAT1 and STAT3. However, harmonization of laboratory testing and follow-up in international cohorts is needed to increase our knowledge about the natural history of these disorders as well as the development of curative or supportive targeted therapies.
journal_name
Expert Rev Clin Immunoljournal_title
Expert review of clinical immunologyauthors
Olbrich P,Freeman AFdoi
10.1080/1744666X.2018.1531704subject
Has Abstractpub_date
2018-12-01 00:00:00pages
1029-1041issue
12eissn
1744-666Xissn
1744-8409journal_volume
14pub_type
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journal_title:Expert review of clinical immunology
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journal_title:Expert review of clinical immunology
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journal_title:Expert review of clinical immunology
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journal_title:Expert review of clinical immunology
pub_type: 杂志文章,评审
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更新日期:2018-11-01 00:00:00
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pub_type: 杂志文章,评审
doi:10.1586/1744666X.2014.948424
更新日期:2014-10-01 00:00:00
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pub_type: 杂志文章
doi:10.1080/1744666X.2020.1713755
更新日期:2020-02-01 00:00:00
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journal_title:Expert review of clinical immunology
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pub_type: 杂志文章,评审
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