Interleukin-21 receptor gene polymorphism (rs2285452 A/G) is associated with susceptibility to Behçet's disease.

Behçet's disease (BD) is a chronic auto inflammatory disorder of unknown aetiology. Recently, the dysregulation of interleukin-21 receptor (IL-21R) has been incriminated in different autoimmune and auto-inflammatory diseases, such as systemic lupus erythematous, rheumatoid arthritis, and type 1 diabetes. Herein, we aimed to investigate the association of two Il-21R gene polymorphisms with BD. IL-21R rs2214537 and IL-21R rs2285452 genotypings were investigated in a cohort of 110 adult patients with BD and 116 age and gender unmatched healthy controls. Genotyping was performed by mutagenically separated polymerase chain reaction with newly designed primers. IL-21R rs2285452 genotypes and alleles distribution were statistically different between patients with BD and controls. GA and AA genotypes carrying the minor A allele were more frequent in patients with BD than in healthy controls (37.3% and 11.8% vs. 23.3% and 3.4%, respectively). The minor A allele was associated with an increased BD risk (odds ratios = 2.42, 95% confidence interval = 1.214.87, p = .005). IL-21R rs2214537 GG genotype was found to be associated with susceptibility to BD in the recessive model (GG vs. CC + CG; p = .046, OR =  1.91, 95% CI =  1.003.650. IL-21R rs2285452 and IL-21R rs2214537 were not in linkage disequilibrium (D' = 0.42). The AG haplotype was more frequently observed in patients with BD than in controls (0.247 vs. 0.056, p =  .0001). This study for the first time reports the association of IL-21R rs2285452 and IL-21R rs2214537 with BD. Functional studies are required to elucidate the exact role of these genetic variants.

Epidemio-clinical profile of Takayasu Arteritis at the Center of Tunisia.

INTRODUCTION: Takayasu's Arteritis (TA) is a systemic vasculitis affecting the aorta and its main branches. AIM: To describe the epidemiological, diagnostic, therapeutic and prognostic profile of TA in the referral departments of internal medicine in the Sousse region (Tunisia). METHODS: This is a descriptive, retrospective and exhaustive study, carried out in the two departments of Internal Medicine of Sousse. Patients followed for AT, from 1996 to 2020 were included. The disease was defined according to the classification criteria of the American College of Rheumatology. Disease activity was assessed according to NIH criteria. Age referred to the date of diagnosis. RESULTS: The study population consisted of 40 patients (Sahloul: n=32, Hached: n=8) with a sex ratio=0.17 and a median age=35 years (IIQ=[30-41]). The median diagnostic delay was 5 months (IIQ=[2-14]). The main clinical sign was pulse abolition and/or decrease (78%). Aortic stenosis was the main arterial lesion found (98%). Treatment was based on corticosteroids (95%) and immunosuppressants (42%). The prognosis of TA was often active (62%), with vascular co-morbidity (60%) and iatrogenic complications (35%). CONCLUSION: The epidemiological-clinical profile of AT in the region of Sousse (Tunisia) was characterized by a female predominance, a diagnostic delay, a clinical polymorphism, and evolution towards vascular co-morbidities.

Rituximab-induced mild encephalopathy with a reversible splenial lesion syndrome (MERS): An adverse effect to add to the list.

Mild encephalopathy with a reversible splenial lesion syndrome (MERS) is a rare clinico-radiological entity. Rituximab (RTX)-induced MERS has never been described before. Herein, we report the case of a 33-year-old patient diagnosed since 2017, with an IgG4-related disease (IgG4-RD). This diagnosis was retained in the face of a prolonged fever, sicca syndrome, hepatic damage and renal pseudotumour associated to a high level of IGg4 at 2.8 g/L with suggestive renal histology. The patient was treated with corticosteroid therapy with persistence of renal impairment and nephrotic syndrome indicating RTX therapy. The patient received his first dose of RTX and presented neurological and respiratory impairments a few hours afterwards. An infectious investigation comprising a SARS CoV-2 PCR and viral PCRs (VZV, herpes and CMV) on cerebrospinal fluid (CSF) were negative. The HBV, HCV, HIV, Parvo B19, CMV, EBV, herpes, mycoplasma and syphilis serologies as well as Legionella antigenuria were also negative. The patient had received intravenous immunoglobulins (IVIG) and methylprednisone, associated with sodium valproate with favourable outcome. The diagnosis of MERS induced by RTX was retained in our patient according to clinical and radiological features. We herein report the first case of MERS following RTX in a patient treated for IgG4-RD.

Influence of weather and air pollution on the occurrence of idiopathic pulmonary embolism in the region of Sousse (Tunisia).

Pulmonary embolism (PE) is the most serious manifestation of thromboembolic conditions. Its incidence varies considerably between countries, suggesting its interaction with the external environment. To analyze the influence of climate and air pollution on the occurrence of idiopathic PE in the region of Sousse (Tunisia). A total of 142 patients with idiopathic PE at two academic hospitals in Sousse (Tunisia) were enrolled in the study over a 7-year period. An analysis of two time series (environmental data and PE cases) was performed. Climatic data were collected from the National Institute of Meteorology. Air pollution data were obtained from the modeling platform of the National Agency for Protection of the Environment. The year 2015 was marked by the occurrence of the highest number of cases (24.6%). A statistically significant decrease in PE risk of 41.9% was observed during the summer with an OR of 0.59 (95% CI [0.36-0.94] and p = 0.026), compared with other seasons. Poisson GLM regression showed a significant increased risk of PE of 3.3% for each 1 °C temperature drop. After multiple binary logistic regression, the elevation of PM10 concentration was independently associated with an increased risk of PE (p < 10-3, OR 79.55, 95% CI [42.28-149.6]). Some environmental parameters may predispose to the onset of idiopathic PE. Understanding their accurate influence may have preventive and curative implications.

IRAK2 is associated with systemic lupus erythematosus risk.

INTRODUCTION: Interleukin-1 receptor-associated kinases (IRAKs) are serine-threonine kinases involved in toll-like receptor and interleukin-1 signaling pathways. They play a key role in inflammation and innate immunity. IRAKs have been previously incriminated in autoimmune diseases such as systemic lupus erythematosus (SLE) and rheumatoid arthritis and inhibition of IRAKs has been recently regarded as a potential therapeutic strategy for SLE. OBJECTIVES: The aim of the present study was to test the association between IRAK2 rs708035 and rs3844283 with SLE. MATERIAL AND METHODS: IRAK2 rs708035 and rs3844283 were genotyped by mutagenically separated polymerase chain reaction (MS-PCR) in 142 SLE patients and 149 age- and gender-matched controls. RESULTS: The hyperfunctional IRAK2 rs708035 A allele was more frequent among SLE patients than controls (62.9% versus 54.7%, p = 0.046). IRAK2 rs3844283 C allele was present in 66.5% of patients and 75.5% of controls. The CC genotype was the most frequently exhibited genotype. It was carried by 45.1% of patients with SLE and 57.7% of controls. The G allele was associated with an increased risk of SLE (OR = 1.54, 95%, CI = 1.07-2.22, p = 0.017). IRAK2 rs708035 and IRAK2 rs3844283 were in linkage disequilibrium (D' = 0.64). The AG haplotype was more frequently observed in SLE patients than in controls (0.292 versus 0.194, p = 0.008). CONCLUSION: This study for the first time ever reveals the association of IRAK2 rs708035 and IRAK2 rs3844283 and the corresponding haplotypes with SLE. Our findings give additional rationale to target IRAKs in the treatment of SLE.Key Points• IRAK2 rs708035 A allele is more frequent in SLE patients than in controls and IRAK2 rs3844283 G allele is associated with SLE susceptibility.• These two alleles are in linkage disequilibrium.• The AG haplotype is associated with SLE.

A case of primary biliary cirrhosis associated with pernicious anemia: a case report.

Primary biliary cirrhosis is often associated with autoimmune diseases. However, its association with pernicious anemia has rarely been reported.We report a case of a 68-year-old woman who presented jaundice and pruritus. Mildly elevated serum levels of alkaline phosphatase and gamma-glutamyl transpeptidase were detected. The titer of anti-mitochondrial M(2 )anti-body was elevated. Histology of liver biopsy showed features of primary biliary cirrhosis. In addition, aregenerative macrocytic anemia was found in the full blood count. The diagnosis of pernicious anemia was established by megaloblastosis in bone marrow, atrophic gastritis without Helicobacter pylori, low level of vitamin B(12 )and good response to treatment regimen of vitamin B(12). The association of primary biliary cirrhosis and pernicious anemia is unlikely to be casual and may be explained by autoimmune mechanism commonly shared by the diseases.