Fine mapping and bioinformatic analysis of the DDX6-CXCR5 genetic risk association in Sjögren\'s Disease (SjD) and Systemic Lupus Erythematosus (SLE) identified five common SNPs with functional evidence in immune cell types: rs4938573, rs57494551, rs4938572, rs4936443, rs7117261. Functional interrogation of nuclear protein binding affinity, enhancer/promoter regulatory activity, and chromatin-chromatin interactions in immune, salivary gland epithelial, and kidney epithelial cells revealed cell type-specific allelic effects for all five SNPs that expanded regulation beyond effects on DDX6 and CXCR5 expression. Mapping the local chromatin regulatory network revealed several additional genes of interest, including lnc-PHLDB1-1. Collectively, functional characterization implicated the risk alleles of these SNPs as modulators of promoter and/or enhancer activities that regulate cell type-specific expression of DDX6, CXCR5, and lnc-PHLDB1-1, among others. Further, these findings emphasize the importance of exploring the functional significance of SNPs in the context of complex chromatin architecture in disease-relevant cell types and tissues.

Cerebrovascular events remain a rare but serious feature of systemic lupus erythematosus (SLE). In this report, we see a 25-year-old lady who presented with sudden-onset right-sided weakness and speech disturbances. She was initiated on anti-platelet therapy and glucocorticoids. Her admission was complicated by worsening kidney function due to lupus nephritis. She responded well to immunosuppressant therapy and was discharged following resolution of her symptoms for outpatient specialist follow-up. The rarity of such cases poses a diagnostic and treatment challenge. A language barrier and difficult social circumstances can exacerbate this. However, awareness of neuropsychiatric lupus as a differential diagnosis at the acute assessment of stroke and early involvement of specialist teams, allied health professionals, and safeguarding teams can lead to a successful long-term outcome.

Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by high heterogeneity of clinical manifestations and an uncertain prognosis. Although the mortality rate due to SLE has decreased significantly in recent decades, there is still a need to find good tools to measure disease activity for early detection of exacerbations and treatment planning. Over the decades, more than a dozen disease activity scales/indicators have been developed, with the SLE Disease Activity Index (SLEDAI) being the most popular. More recently, the new SLE Disease Activity Score (SLE-DAS) has been introduced. This paper compares the two methods of assessing SLE activity, and presents the relevance of these scales in pregnant SLE patients and their use in formulating definitions of remission and low disease activity. The results show that the SLEDAI and the SLE-DAS are of comparable value in assessing SLE activity and complement each other.

UNASSIGNED: Premature atherosclerosis is associated with systemic lupus erythematosus (SLE). We have previously shown an association of anti-Ro60/La/Ro52 with antioxidized low-density lipoprotein (LDL) in SLE. Here, we hypothesized that carotid intima-media thickening (CIMT) would be associated with antioxidized LDL (anti-oxLDL)/antilipoprotein lipase (ALPL) in a specific SLE autoantibody subset (anti-Ro60 positive, anti-RNP positive, anti-SmRNP positive, or extractable nuclear antigen antibody negative).
UNASSIGNED: We carried out a case-control study (one time-point testing) of CIMT, ALPL, anti-oxLDL, anti-low density lipoprotein (ALDL), and anti-LDL in 114 SLE patients and 117 age/sex-matched controls. The levels of total cholesterol, LDL, high-density lipoprotein (HDL), triglycerides, and HDL-Trig were also measured. A student\'s t-test was used for statistical analysis.
UNASSIGNED: Interestingly, the level of CIMT was highest in the SLE subset with anti-Ro60 (23/114). CIMT and anti-oxLDL were statistically significantly elevated in the anti-Ro60 SLE subset (1.3 ± 1.66, p < 0.01; 0.26 ± 0.16, p < 0.002, respectively) compared with controls (0.54 ± 1.26; 0.165 ± 0.13, respectively), but not anti-LPL/anti-LDL. CIMT was significantly elevated (0.9 ± 1.71; p < 0.05) in the SLE subset without antiextractable nuclear antigen (ENA) (63/114) compared with controls. The other antibodies in this subset were not statistically different from other SLE subsets or controls. Only antioxLDL was significantly elevated (0.29 ± 0.27; p < 0.005) in the SLE subset with anti-RNP (14/114) compared with controls, while none were elevated in the anti-SmRNP subset (6/114). We did not find any significant differences in lipids between the various SLE subsets.
UNASSIGNED: CIMT segregates in anti-Ro and ENA negative groups either with or without anti-oxLDL. It will be clinically important if cardiovascular events are augmented in the SLE anti-Ro subset having elevated antioxidized LDL antibodies.

Systemic lupus erythematosus (SLE) is an autoimmune condition characterized by antibodies targeting nuclear and cytoplasmic antigens. It can present with diverse clinical symptoms, including pancytopenia. We present the case of an African American woman in her 20s, with a history of SLE who presented with bruising on her body. She had been receiving treatment with hydroxychloroquine, mycophenolate, prednisone, and lisinopril. During a follow-up visit, her workup revealed pancytopenia, prompting an investigation for causes. A flare-up of underlying SLE or mycophenolate toxicity was the likely culprit. However, the clinical picture was not aligned with either. A bone marrow biopsy ultimately led to the diagnosis of acute promyelocytic leukemia. The incidence of acute promyelocytic leukemia following SLE is exceedingly rare. Hence, it could present a significant diagnostic dilemma in patients with pancytopenia and underlying SLE.

Systemic lupus erythematosus (SLE) is a multi-systemic disorder affecting almost all systems of the body. Involvement of the kidney in this condition is known as lupus nephritis (LN). LN is one of the important disease manifestations of SLE with considerable influence on patient outcomes in terms of morbidity and mortality. A 33-year-old female came to the OPD with complaints of abdominal pain, infrequent loose stools since 4 months. The patient also had joint pain, predominantly small joints, since 2 months. Patient was admitted and all routine investigations were done. Patient underwent an oesophagogastroduodenoscopy (OGD) and colonoscopy for her abdominal pain and loose stools which did not respond to routine medication. Grossly there was edema present in the oesophagus and colon which on microscopy showed eosinophilic infiltration. Urine routine of the patient showed protein 1+and 24-hour urine protein quantification of 1427 mg/24 h. On further evaluation patient was found to have a positive ANA blot (dsDNA, AMAM2, Ro52 and Sm). The patient was planned for a renal biopsy in view of the proteinuria and positive ANA blot. The patient underwent a renal biopsy under USG guidance and was found to have Lupus nephritis Class 3 (ISN RPS staging). SLE is a multi-organ involving disease which if not diagnosed at the earliest can have serious complications and lead to end stage organ failure and even death. Atypical presentations often pose a diagnostic dilemma and may delay diagnosis and treatment. Early diagnosis and treatment can give patients of SLE a long and normal life. Diagnostic guidelines have helped in the diagnosis of such atypical presentations.