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

Aicardi‐Goutières syndrome JAK‐inhibitors baricitinib neurodevelopmental outcome

Journal

Clinical case reports
ISSN: 2050-0904
Titre abrégé: Clin Case Rep
Pays: England
ID NLM: 101620385

Informations de publication

Date de publication:
Aug 2023
Historique:
received: 08 05 2023
revised: 14 06 2023
accepted: 09 07 2023
medline: 3 8 2023
pubmed: 3 8 2023
entrez: 3 8 2023
Statut: epublish

Résumé

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. We report the treatment response to baricitinib, a JAK-inhibitor, in a 4-year-old girl affected by Aicardi-Goutières syndrome (AGS2,

Identifiants

pubmed: 37534202
doi: 10.1002/ccr3.7724
pii: CCR37724
pmc: PMC10390657
doi:

Types de publication

Case Reports

Langues

eng

Pagination

e7724

Informations de copyright

© 2023 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.

Déclaration de conflit d'intérêts

The authors declare no competing interests.

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Auteurs

Jessica Galli (J)

Department of Clinical and Experimental Sciences University of Brescia Brescia Italy.
Unit of Child Neurology and Psychiatry ASST Spedali Civili of Brescia Brescia Italy.

Marco Cattalini (M)

Department of Clinical and Experimental Sciences University of Brescia Brescia Italy.
Pediatrics Clinic ASST Spedali Civili of Brescia Brescia Italy.

Erika Loi (E)

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

Rosalba Monica Ferraro (RM)

Department of Molecular and Translational Medicine University of Brescia Brescia Italy.
"Angelo Nocivelli" Institute for Molecular Medicine, ASST Spedali Civili of Brescia Brescia Italy.

Silvia Giliani (S)

Department of Molecular and Translational Medicine University of Brescia Brescia Italy.
"Angelo Nocivelli" Institute for Molecular Medicine, ASST Spedali Civili of Brescia Brescia Italy.

Simona Orcesi (S)

Child Neurology and Psychiatry Unit IRCCS Mondino Foundation Pavia Italy.
Department of Brain and Behavioral Sciences University of Pavia Pavia Italy.

Lorenzo Pinelli (L)

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

Raffaele Badolato (R)

Department of Clinical and Experimental Sciences University of Brescia Brescia Italy.
Pediatrics Clinic ASST Spedali Civili of Brescia Brescia Italy.

Elisa Fazzi (E)

Department of Clinical and Experimental Sciences University of Brescia Brescia Italy.
Unit of Child Neurology and Psychiatry ASST Spedali Civili of Brescia Brescia Italy.

Classifications MeSH