Treatment response to Janus kinase inhibitor in a child affected by <scp>Aicardi‐Goutières</scp> syndrome-Reference-Cited by-同舟云学术

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

Published:2023-07-31 Issue:8 Volume:11 Page:
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clinical Case Reports

Author:

Galli Jessica¹²^ORCID,Cattalini Marco¹³,Loi Erika¹,Ferraro Rosalba Monica⁴⁵,Giliani Silvia⁴⁵,Orcesi Simona⁶⁷,Pinelli Lorenzo⁸,Badolato Raffaele¹³,Fazzi Elisa¹²

Affiliation:

1. Department of Clinical and Experimental Sciences University of Brescia Brescia Italy

2. Unit of Child Neurology and Psychiatry ASST Spedali Civili of Brescia Brescia Italy

3. Pediatrics Clinic ASST Spedali Civili of Brescia Brescia Italy

4. Department of Molecular and Translational Medicine University of Brescia Brescia Italy

5. “Angelo Nocivelli” Institute for Molecular Medicine, ASST Spedali Civili of Brescia Brescia Italy

6. Child Neurology and Psychiatry Unit IRCCS Mondino Foundation Pavia Italy

7. Department of Brain and Behavioral Sciences University of Pavia Pavia Italy

8. Neuroradiology Unit, Section of Pediatric Neuroradiology ASST Spedali Civili of Brescia Brescia Italy

Abstract

Key Clinical MessageBaricitinib, 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.AbstractWe 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.

Publisher

Wiley

Subject

General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.7724

Reference17 articles.

1. Treatments in Aicardi–Goutières syndrome

2. Exploring Autoimmunity in a Cohort of Children with Genetically Confirmed Aicardi–Goutières Syndrome

3. Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review

4. Case Report: The JAK-Inhibitor Ruxolitinib Use in Aicardi-Goutieres Syndrome Due to ADAR1 Mutation

5. JAK-inhibitors. New players in the field of immune-mediated diseases, beyond rheumatoid arthritis

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