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Master Thesis

Mutation de STAT 3 Gain de Fonction : revue systématique de la littérature

Abstract : INTRODUCTION : Signal transducer and activator of transcription 3 (STAT3) gain-of-function (GOF) germline mu- tations have been recently described. A comprehensive overview of this early-onset multiorgan autoimmune and lymphoproli- ferative disease has not yet been compiled. We have conducted a systematic review of published STAT3 GOF cases to describe clinical, diagnostic, and therapeutic aspects of the disease.
METHODS : A systematic review including articles published before October 10, 2018, in PubMed, Web of Science, and Cochrane Central Register of Controlled Trials databases was performed. We described cases of patients with STAT3 GOF germline mutations with genetic analysis and a concordant phenotype if functional analyses were not performed for the mutation.
RESULTS : The search identified 18 publications describing 42 unique patients. Twenty-eight different mutations were described. Onset of disease was very early with an average age of 3 (0.5-5) years. The most frequent manifestations were autoim- mune cytopenias (28 of 42), lymphoproliferation (27 of 42), enteropathy (24 of 42), interstitial lung disease (15 of 42), thyroiditis (13 of 42), diabetes (10 of 42), and postnatal growth failure (15 of 21). Immunodeficiency was not always a pre- dominant feature. Most patients required significant immuno- suppressive therapy. Five patients received hematopoietic stem cell transplantation, and 4 died from complications. Improve- ment of symptoms was observed for 8 of 9 patients who received targeted biotherapies.
CONCLUSIONS : STAT3 GOF syndrome is a new clinical entity to consider when confronted with a patient with early-onset polyautoimmunity, lymphoproliferation, and growth failure. At this time, precise therapeutic guidelines are lacking, but use of anti-IL-6 receptor and JAK inhibitor biologics is an attractive possibility.
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Master Thesis
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Submitted on : Friday, October 18, 2019 - 2:28:56 PM
Last modification on : Thursday, January 7, 2021 - 12:50:02 PM
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  • HAL Id : dumas-02320090, version 1


Sarah Marchal. Mutation de STAT 3 Gain de Fonction : revue systématique de la littérature. Human health and pathology. 2019. ⟨dumas-02320090⟩