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Article

Baricitinib Treatment in RNU7-1-Associated Aicardi-Goutières Syndrome in a South African Child: A Case Report.

American journal of medical genetics. Part A - 1 May 2025

Spracklen Timothy F, Akhalwaya Shehnaaz, Ackermann Sally, Uggenti Carolina, Seabra Luis, Crow Yanick J, Webb Kate

Abstract excerpt

Aicardi-Goutières syndrome (AGS) is a rare monogenic type I interferonopathy. Janus kinase (JAK) inhibition has emerged as a potential treatment for AGS. RNU7-1 is one of the most recently discovered genes for AGS, and the clinical effects of JAK inhibition in these patients have not been reported. Here, we describe the diagnosis and treatment of a South African infant with RNU7-1-related AGS. The patient...

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PMID: 39748568
DOI: 10.1002/ajmg.a.63978
PMCID: PMC7617338

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