Systemic lupus erythematosus (SLE) is a complex autoimmune disease that causes substantial morbidity. As is typical for many other multifactorial disorders, much of the heritability of SLE remains unknown. We identified a rare autosomal recessive form of SLE, in which autozygome analysis revealed a null mutation in the DNASE1L3 gene. The DNASE1L3-related SLE we describe was always pediatric in onset and correlated with a high frequency of lupus nephritis. Our findings confirm the critical role of impaired clearance of degraded DNA in SLE pathogenesis.

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There is a worldwide variation in the incidence of childhood manifestation of systemic lupus erythematosus, which may be related to environmental, genetic and geographical factors. The aim of the study is to describe for the first time the clinical and immunological characteristics of childhood onset systemic lupus erythematosus at diagnosis in the Sultanate of Oman. We retrospectively reviewed the records of 50 children with systemic lupus erythematosus fulfilling the American College of Rheumatology criteria between 1990 and 2006. There were 42 girls and eight boys. The mean age of disease onset was low at 8.6 years (SD 3.1). The female:male ratio was 5.3:1. The most frequent clinical manifestations at initial diagnosis were: articular (76%), cutaneous (70%), haematological (68%) and renal (64%) dominated by class IV nephritis, pulmonary (26%), neuropsychiatric (18%) and cardiac (10%). A positive antinuclear antibody (>1:80) was present in 94% at diagnosis. Positive anti-double stranded DNA was present in 82% and low complement levels were present in 84% at diagnosis. This is the first review of childhood onset systemic lupus erythematosus in the Sultanate of Oman.

BackgroundThere is a worldwide variation in the prevalence and subtype distribution of juvenile idiopathic arthritis (JIA) which may be affected by ethnicity and genetic factors. The purpose of this study is to determine the prevalence, subtype distribution and characteristic features of JIA among Omani children and to compare our results with other ethnic populations worldwide.MethodsA population-based, multicenter study among pediatric rheumatology clinics in the Sultanate over a 10 year period between 2004–2013. The diagnosis of JIA and identification of JIA subtypes was based on the ILAR 2004 revised criteria. The hospital charts of these patients were retrospectively reviewed and information was collected. All patients were screened for uveitis by an ophthalmologist using slit lamp examination during regular follow up visits.ResultsThe study included a total of 107 cases of JIA in Oman over the study period. Among the 107 patients, 71 % (n = 77) were girls with a female:male ratio of 2.5:1. The mean age of disease onset was 6.85 ± 3.86 years (range 1–13years) while the mean disease duration of 4.8 ± 2.9 years (range 1–11 years). The incidence of JIA was estimated at 2/100,000 with a prevalence of JIA of 20/100,000. The prevalence of JIA in girls was 28/100,000 while the prevalence in boys was 12/100,000. According to disease distribution, the most frequent subtype was polyarticular JIA rheumatoid factor negative (39.2 %) followed by oligoarthritis (31.8 %), systemic (17.8 %), polyarticular JIA rheumatoid factor positive (7.5 %). The unique feature of the Omani cohort is the lack of occurrence of uveitis.ConclusionsThis is the first epidemiological JIA study conducted in Oman that highlights unique geographical disease phenotype. Compared to Western counties, there were higher frequency of polyarticular disease and lack of occurrence of uveitis. Further studies are needed to evaluate the implications of genetic, ethnic and environmental differences of disease expression.

Pregnancies in women with SLE were associated with higher neonatal and maternal complications. Therefore, pregnant women with SLE should have their pregnancy accurately planned, monitored, and managed according to a multidisciplinary treatment schedule.

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A ten-year retrospective analysis of the clinical features and survival of 60 Saudi children with systemic lupus erythematosus (SLE) was made. All the patients fulfilled the 1982 American College of Rheumatology's revised criteria for SLE and had had the disease at or before the age of 16 years. The female to male ratio was 5:1, the mean age of onset was 12.1 years (range 1.6-16 years), and the mean duration of follow-up was 4.7 years (range 2.2-11). Thirty-eight patients (63%) were diagnosed correctly before referral to KFSH&RC or KKUH. The mode of presentation was as follows: 55 patients had musculoskeletal involvement (91.6%), 49 patients had skin involvement (81.6%), 40 patients had hematological abnormalities (66.6%), 39 patients had renal disease (65%), 10 patients had pulmonary involvement (16%), 23 patients had cardiovascular disease (38%) and 18 patients had central nervous system involvement. During the study period four patients died (6.6%)-two of renal failure, one from meningitis and one from severe sepsis. This is the largest collection of childhood systemic lupus erythematosus from the Middle East and it shows that SLE is more common in Saudis than was hitherto believed, and that it has a high rate of organ involvement.

Aim This study is a longitudinal multicenter study which aims to find the prevalence, the demographic data, survival and mortality rates of patients with systemic lupus erythematosus (SLE) in Oman. Method All Omani patients, pediatrics and adults diagnosed with SLE, who fulfill either the 1997 American College of Rheumatology or Systemic Lupus International Collaborating Clinics classifications criteria for SLE were included from January 2006 till February 2020. Results In total 1160 patients were included in this cohort. Data analysis showed that patient’s ages ranged from 2‐82 years with female predominance and female‐to‐male ratio of 7:1 (87.7% female,12.3% male). The mean prevalence of SLE among different age groups was 38.8 (range 5‐63 per 100 000 inhabitants). The mortality rate was found to be 5%. Male patients had significantly higher mortality rate than females (7.6% vs 5.4%, P value = .04). Sepsis was the commonest cause of mortality (34%). The coexistence of systemic sclerosis correlates significantly with death (P = .002). Survival analysis in our data showed 5, 10, 20, 40‐year survival rates of 100%, 100%, 99% and 90% respectively for antinuclear antibody (ANA) positive patients and lower survival rate for ANA negative patients with 5,10, 20, 40‐year survival rates of 100, 99%, 99% and 75%, respectively. Conclusion This study showed that the mean prevalence of SLE in Oman to be 38.8 (range 5‐63) per 100 000 inhabitants. The 40‐year survival rate among patients with positive ANA was found to be 90%, while patients with negative ANA had worse survival outcomes.