Rheumatology (Oxford)
December 2024
Objective: In this study, we aim to describe the largest cohort of monogenic lupus caused by DNASE1L3 yet reported, describing its phenotypic characteristics and outcomes.
Methods: We performed a multicentre retrospective chart review for enrolled patients with childhood-onset systemic lupus erythematosus (cSLE) followed in pediatric rheumatology tertiary centers in the Sultanate of Oman. We included cSLE patients with genetically confirmed DNASE1L3 mutation.
ISG15 deficiency is a rare disease caused by autosomal recessive variants in the gene, which encodes the ISG15 protein. The ISG15 protein plays a dual role in both the type I and II interferon (IFN) immune pathways. Extracellularly, the ISG15 protein is essential for IFN-γ-dependent anti-mycobacterial immunity, while intracellularly, ISG15 is necessary for USP18-mediated downregulation of IFN-α/β signalling.
View Article and Find Full Text PDFBackground: The ACR 1997, SLICC 2012 and EULAR/ACR 2019 classification criteria were validated based on adult patients. To date, there are no classification criteria specific for children with SLE. The aim of the study is to compare the performance characteristics among the three SLE classification criteria (ACR-1997, SLICC-2012 and EULAR/ACR-2019) in childhood onset SLE (cSLE) cohort of Arab ethnicity from Oman.
View Article and Find Full Text PDFInt J Pediatr Adolesc Med
September 2020
Objectives: Group B streptococcus (GBS) infection is a serious disease that continues to cause high morbidity and mortality. It is one of the leading cause of sepsis; particularly meningitis, in infants and young children all around the world. In this study, we aim to identify the incidence of GBS sepsis in Omani infants less than 3 months of age who were born at Royal Hospital and who presented with clinical sepsis and positive culture.
View Article and Find Full Text PDF© LitMetric 2025. All rights reserved.