Treatment of STING-associated vasculopathy with onset in infancy in patients carrying a novel mutation in the TMEM173 gene with the JAK3-inhibitor tofacitinib

OBJECTIVES: This study aimed to reveal the genetic background of patients in the two-generation family suffering from rheumatoid arthritis, psoriatic arthropathy pain, scratches, and bruises. PATIENTS AND METHODS: A clinical exome sequencing analysis was performed in 10 individuals in the same famil...

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Autores principales: Tokgun, Pervin Elvan, Karagenc, Nedim, Karasu, Uğur, Tokgun, Onur, Turel, Samet, Demiray, Aydın, Akca, Hakan, Yüksel, Selçuk
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Turkish League Against Rheumatism 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10689023/
https://www.ncbi.nlm.nih.gov/pubmed/38046254
http://dx.doi.org/10.46497/ArchRheumatol.2023.9927
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author Tokgun, Pervin Elvan
Karagenc, Nedim
Karasu, Uğur
Tokgun, Onur
Turel, Samet
Demiray, Aydın
Akca, Hakan
Yüksel, Selçuk
author_facet Tokgun, Pervin Elvan
Karagenc, Nedim
Karasu, Uğur
Tokgun, Onur
Turel, Samet
Demiray, Aydın
Akca, Hakan
Yüksel, Selçuk
author_sort Tokgun, Pervin Elvan
collection PubMed
description OBJECTIVES: This study aimed to reveal the genetic background of patients in the two-generation family suffering from rheumatoid arthritis, psoriatic arthropathy pain, scratches, and bruises. PATIENTS AND METHODS: A clinical exome sequencing analysis was performed in 10 individuals in the same family using the Sophia Genetics clinical exome solution kit. RESULTS: A novel V194L mutation in the TMEM173 gene was identified in three members of the family. Two of the family members were treated with the JAK3 inhibitor tofacitinib and recovered completely one month after the treatment. CONCLUSION: The V194L mutation was reported for the first time in this study, and a positive response was achieved with tofacitinib.
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spelling pubmed-106890232023-12-01 Treatment of STING-associated vasculopathy with onset in infancy in patients carrying a novel mutation in the TMEM173 gene with the JAK3-inhibitor tofacitinib Tokgun, Pervin Elvan Karagenc, Nedim Karasu, Uğur Tokgun, Onur Turel, Samet Demiray, Aydın Akca, Hakan Yüksel, Selçuk Arch Rheumatol Original Article OBJECTIVES: This study aimed to reveal the genetic background of patients in the two-generation family suffering from rheumatoid arthritis, psoriatic arthropathy pain, scratches, and bruises. PATIENTS AND METHODS: A clinical exome sequencing analysis was performed in 10 individuals in the same family using the Sophia Genetics clinical exome solution kit. RESULTS: A novel V194L mutation in the TMEM173 gene was identified in three members of the family. Two of the family members were treated with the JAK3 inhibitor tofacitinib and recovered completely one month after the treatment. CONCLUSION: The V194L mutation was reported for the first time in this study, and a positive response was achieved with tofacitinib. Turkish League Against Rheumatism 2023-02-03 /pmc/articles/PMC10689023/ /pubmed/38046254 http://dx.doi.org/10.46497/ArchRheumatol.2023.9927 Text en Copyright © 2023, Turkish League Against Rheumatism https://creativecommons.org/licenses/by-nc/4.0/This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle Original Article
Tokgun, Pervin Elvan
Karagenc, Nedim
Karasu, Uğur
Tokgun, Onur
Turel, Samet
Demiray, Aydın
Akca, Hakan
Yüksel, Selçuk
Treatment of STING-associated vasculopathy with onset in infancy in patients carrying a novel mutation in the TMEM173 gene with the JAK3-inhibitor tofacitinib
title Treatment of STING-associated vasculopathy with onset in infancy in patients carrying a novel mutation in the TMEM173 gene with the JAK3-inhibitor tofacitinib
title_full Treatment of STING-associated vasculopathy with onset in infancy in patients carrying a novel mutation in the TMEM173 gene with the JAK3-inhibitor tofacitinib
title_fullStr Treatment of STING-associated vasculopathy with onset in infancy in patients carrying a novel mutation in the TMEM173 gene with the JAK3-inhibitor tofacitinib
title_full_unstemmed Treatment of STING-associated vasculopathy with onset in infancy in patients carrying a novel mutation in the TMEM173 gene with the JAK3-inhibitor tofacitinib
title_short Treatment of STING-associated vasculopathy with onset in infancy in patients carrying a novel mutation in the TMEM173 gene with the JAK3-inhibitor tofacitinib
title_sort treatment of sting-associated vasculopathy with onset in infancy in patients carrying a novel mutation in the tmem173 gene with the jak3-inhibitor tofacitinib
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10689023/
https://www.ncbi.nlm.nih.gov/pubmed/38046254
http://dx.doi.org/10.46497/ArchRheumatol.2023.9927
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