Treatment response to Janus kinase inhibitor in a child affected by Aicardi‐Goutières syndrome

KEY CLINICAL MESSAGE: Baricitinib, a Janus kinase inhibitor (JAK‐inhibitor), seems to contribute to an improvement of a child affected by Aicardi‐Goutières syndrome (AGS), reducing the interferon score and determining a recovery of cognitive, communicative, and relational dysfunctions, while the gro...

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Autores principales: Galli, Jessica, Cattalini, Marco, Loi, Erika, Ferraro, Rosalba Monica, Giliani, Silvia, Orcesi, Simona, Pinelli, Lorenzo, Badolato, Raffaele, Fazzi, Elisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10390657/
https://www.ncbi.nlm.nih.gov/pubmed/37534202
http://dx.doi.org/10.1002/ccr3.7724
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author Galli, Jessica
Cattalini, Marco
Loi, Erika
Ferraro, Rosalba Monica
Giliani, Silvia
Orcesi, Simona
Pinelli, Lorenzo
Badolato, Raffaele
Fazzi, Elisa
author_facet Galli, Jessica
Cattalini, Marco
Loi, Erika
Ferraro, Rosalba Monica
Giliani, Silvia
Orcesi, Simona
Pinelli, Lorenzo
Badolato, Raffaele
Fazzi, Elisa
author_sort Galli, Jessica
collection PubMed
description KEY CLINICAL MESSAGE: Baricitinib, a Janus kinase inhibitor (JAK‐inhibitor), seems to contribute to an improvement of a child affected by Aicardi‐Goutières syndrome (AGS), reducing the interferon score and determining a recovery of cognitive, communicative, and relational dysfunctions, while the gross motor deficit persisted. ABSTRACT: We report the treatment response to baricitinib, a JAK‐inhibitor, in a 4‐year‐old girl affected by Aicardi‐Goutières syndrome (AGS2, RNASEH2B mutation). Using quantitative measures, we detected a significant amelioration characterized by a complete recovery of cognitive, communicative, and relational skills after 8 and 16 months from the beginning of therapy.
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spelling pubmed-103906572023-08-02 Treatment response to Janus kinase inhibitor in a child affected by Aicardi‐Goutières syndrome Galli, Jessica Cattalini, Marco Loi, Erika Ferraro, Rosalba Monica Giliani, Silvia Orcesi, Simona Pinelli, Lorenzo Badolato, Raffaele Fazzi, Elisa Clin Case Rep Case Report KEY CLINICAL MESSAGE: Baricitinib, a Janus kinase inhibitor (JAK‐inhibitor), seems to contribute to an improvement of a child affected by Aicardi‐Goutières syndrome (AGS), reducing the interferon score and determining a recovery of cognitive, communicative, and relational dysfunctions, while the gross motor deficit persisted. ABSTRACT: We report the treatment response to baricitinib, a JAK‐inhibitor, in a 4‐year‐old girl affected by Aicardi‐Goutières syndrome (AGS2, RNASEH2B mutation). Using quantitative measures, we detected a significant amelioration characterized by a complete recovery of cognitive, communicative, and relational skills after 8 and 16 months from the beginning of therapy. John Wiley and Sons Inc. 2023-07-31 /pmc/articles/PMC10390657/ /pubmed/37534202 http://dx.doi.org/10.1002/ccr3.7724 Text en © 2023 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Galli, Jessica
Cattalini, Marco
Loi, Erika
Ferraro, Rosalba Monica
Giliani, Silvia
Orcesi, Simona
Pinelli, Lorenzo
Badolato, Raffaele
Fazzi, Elisa
Treatment response to Janus kinase inhibitor in a child affected by Aicardi‐Goutières syndrome
title Treatment response to Janus kinase inhibitor in a child affected by Aicardi‐Goutières syndrome
title_full Treatment response to Janus kinase inhibitor in a child affected by Aicardi‐Goutières syndrome
title_fullStr Treatment response to Janus kinase inhibitor in a child affected by Aicardi‐Goutières syndrome
title_full_unstemmed Treatment response to Janus kinase inhibitor in a child affected by Aicardi‐Goutières syndrome
title_short Treatment response to Janus kinase inhibitor in a child affected by Aicardi‐Goutières syndrome
title_sort treatment response to janus kinase inhibitor in a child affected by aicardi‐goutières syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10390657/
https://www.ncbi.nlm.nih.gov/pubmed/37534202
http://dx.doi.org/10.1002/ccr3.7724
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