Rheumatological complaints in H syndrome: from inflammatory profiling to target treatment in a case study

Rheumatological complaints in H syndrome: from inflammatory profiling to target treatment in a case study

Abstract Background H Syndrome is a rare genetic condition caused by biallelic pathogenic variants in the SLC29A3 gene. It is characterized by a wide range of clinical manifestations, many of which are related to the immune-rheumatological field. These include scleroderma-like skin changes, deformin...

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Bibliographic Details
Main Authors: Alessandra Tesser, Erica Valencic, Valentina Boz, Gianluca Tornese, Serena Pastore, Manuela Zanatta, Alberto Tommasini
Format: Article
Language:English
Published: BMC 2024-01-01
Series:Pediatric Rheumatology Online Journal
Subjects:
SLC29A3
H syndrome
Interferon
Arthritis
JAK inhibitors
Hydroxychloroquine
Online Access:https://doi.org/10.1186/s12969-023-00950-4

Internet

https://doi.org/10.1186/s12969-023-00950-4

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