Literature DB >> 30442829

An Adult Fatal Case with a STAT1 Gain-of-function Mutation Associated with Multiple Autoimmune Diseases.

Keisuke Maeshima, Koji Ishii, Hirotaka Shibata1.   

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Year:  2018        PMID: 30442829     DOI: 10.3899/jrheum.180210

Source DB:  PubMed          Journal:  J Rheumatol        ISSN: 0315-162X            Impact factor:   4.666


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  6 in total

Review 1.  Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy.

Authors:  Satoshi Okada; Takaki Asano; Kunihiko Moriya; Stephanie Boisson-Dupuis; Masao Kobayashi; Jean-Laurent Casanova; Anne Puel
Journal:  J Clin Immunol       Date:  2020-08-27       Impact factor: 8.317

Review 2.  An Update on Childhood-Onset Takayasu Arteritis.

Authors:  Florence A Aeschlimann; Rae S M Yeung; Ronald M Laxer
Journal:  Front Pediatr       Date:  2022-04-13       Impact factor: 3.569

3.  Live Cell Imaging Demonstrates Multiple Routes Toward a STAT1 Gain-of-Function Phenotype.

Authors:  Simone Giovannozzi; Veerle Lemmens; Jelle Hendrix; Rik Gijsbers; Rik Schrijvers
Journal:  Front Immunol       Date:  2020-06-09       Impact factor: 7.561

4.  Transcriptional Profiling of STAT1 Gain-of-Function Reveals Common and Mutation-Specific Fingerprints.

Authors:  Simone Giovannozzi; Jonas Demeulemeester; Rik Schrijvers; Rik Gijsbers
Journal:  Front Immunol       Date:  2021-02-17       Impact factor: 7.561

Review 5.  Monogenic Adult-Onset Inborn Errors of Immunity.

Authors:  Frederik Staels; Tom Collignon; Albrecht Betrains; Margaux Gerbaux; Mathijs Willemsen; Stephanie Humblet-Baron; Adrian Liston; Steven Vanderschueren; Rik Schrijvers
Journal:  Front Immunol       Date:  2021-11-17       Impact factor: 7.561

Review 6.  Spectrum of Large- and Medium-Vessel Vasculitis in Adults: Neoplastic, Infectious, Drug-Induced, Autoinflammatory, and Primary Immunodeficiency Diseases.

Authors:  Fabian Lötscher; Roxana Pop; Pascal Seitz; Mike Recher; Luca Seitz
Journal:  Curr Rheumatol Rep       Date:  2022-08-03       Impact factor: 4.686

  6 in total

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