Reactive hemophagocytic lymphohistiocytosis: Epidemiological, clinico-biological and etiological profile.

Unlabelled: Hemophagocytic lymphohistiocytosis (HLH) is an hyperinflammatory state resulting from increased secretion of proinflammatory cytokines, which are responsible for clinical, biological and cytological manifestations.

Objective: The aim of our study is to describe the epidemiological, clinical, biological, etiological and evolutionary profile of HLH in Tunisia.

Methods: A retrospective study that involved patients, with images of hemophagocytosis in myelograms analyzed at the laboratory of biological hematology of the University Hospital "Hédi-Chaker" of Sfax-Tunisia, followed at these departments: hematology, internal medicine, department of infectious-diseases and department of gastroenterology, (June2017- May2021).

Performances of the H-score and the HLH-2004 score in the positive diagnosis of secondary hemophagocytic lymphohistiocytosis.

Unlabelled: Hemophagocytic lymphocytosis (HLH) is a rare clinical and biological entity that can be life-threatening. Early diagnosis can improve the overall prognosis of HLH.

Objectives: The aims of this study are to evaluate the performances of HLH-2004-score and H-score in identifying patients with secondary HLH and to determine an optimal H-score cut-off for our population.

Subglottic Masses Revealing Rosai-Dorfman Disease.

Unlabelled: Rosai-Dorfman disease (RDD) is an uncommon lymphoproliferative disorder; RDD with oropharyngeal involvement is extremely rare, especially in adults. A 65-year-old woman with a complaint of progressive dyspnoea since 2016 presented with laryngeal involvement of RDD. A laryngoscopy examination revealed two solid, polypoid masses in the subglottic region, and a laryngeal biopsy concluded chronic inflammation without signs of malignancy.

Biclonal Gammopathies in South Tunisia: Clinical and Biological Characteristics.

Objective: Biclonal gammopathies (BGs) are rare situations characterized by the production of 2 monoclonal proteins. There are no available data on BGs in North Africa. We aimed to estimate the prevalence of BGs in our population and describe their clinical and laboratory features.

[A rare cause of AA amyloidosis: Hereditary epidermolysis bullosa].

Introduction: Recessive dystrophic epidermolysis bullosa is a rare genetic condition characterized by fragile skin and mucous membrane, caused by mutations in the COL7A1 gene. AA amyloidosis is a rare complication of these genodermatosis.

Observations: Two patients with recessive dystrophic epidermolysis bullosa, generalized severe in the first case and generalized intermediate in the second case, developed at the age of 38 and 28, respectively, nephrotic syndrome.

Plasma Saturated and Monounsaturated Fatty Acids in Behçet's Disease.

Background: Fatty Acid (FA) composition of serum has been associated with many markers of inflammation. In this study, we tried to examine plasma Saturated Fatty Acid (SFA) and Monounsaturated Fatty Acid (MUFA) composition in Behçet's Disease (BD) patients. The associations between the circulating FA levels and some markers of inflammation have also been investigated.

HLA Class III: A susceptibility region to systemic lupus erythematosus in Tunisian population.

Background And Objectives: Short tandem repeats (STR) are usually used as informative polymorphic markers for genetic mapping and for disease susceptibility analysis. The involvement of these microsatellite markers localized in the MHC region was reported in many auto-immune diseases. In this study we analyzed for the first time eight polymorphisms of microsatellite loci at the HLA region: D6S291, D6S273, TNFa, b and c, MICA, D6S265 and D6S276, in Tunisian systemic lupus erythematosus (SLE) patients.

Association of hyperhomocysteinemia with genetic variants in key enzymes of homocysteine metabolism and methotrexate toxicity in rheumatoid arthritis patients.

Objectives: The study investigated the association between plasma homocysteine, folate and vitamin B12 with 5,10 methylenetetrahydrofolate reductase (MTHFR C677T and A1298C), thymidylate synthase (TYMS 2R → 3R) and methionine synthase (MTR A2756G) polymorphisms and methotrexate (MTX) treatment and toxicity in Tunisian Rheumatoid arthritis (RA) patients.

Methods: A total of 185 patients with RA were included. Homocysteine (Hcy) was assessed by fluorescence polarization immunoassay, and folate and vitamin B12 were measured by chemiluminescence immunoassays.

Human leukocyte antigens-DRB1*03 is associated with systemic lupus erythematosus and anti-SSB production in South Tunisia.

Introduction: Systemic lupus erythematosus (SLE) is an autoimmune disease with various presentations. This variation is due to the interaction of hormonal, environmental, and genetic factors. Associations between human leukocyte antigens and SLE have long been recognized in different ethnic populations and have been suggested to represent the most important association.

Beyond Human Leukocyte Antigen Class I Antigens: Hereditary Hemochromatosis Gene Mutations in Recurrent Aphthous Oral Ulcers and Behçet Disease in the South of Tunisia.

Objective: The aim of this work was to establish human leukocyte antigen (HLA) class I and hereditary hemochromatosis gene (HFE) mutation associations with recurrent aphthous oral ulcers (RAOU) and Behçet disease (BD) in a cohort of Southern Tunisian patients.

Subjects And Methods: A total of 232 patients with RAOU and 123 healthy controls (HCs) were enrolled in this study. The patients were divided into 2 groups based on the presence (BD+: n = 62) or absence of BD (BD-, n = 170).

Measurement of absolute copy number variation of Glutathione S-Transferase M1 gene by digital droplet PCR and association analysis in Tunisian Rheumatoid Arthritis population.

Background: The investigation of copy number variations (CNVs) analysis of candidate genes is currently an important research area in modulating human diseases. We aimed to quantify CNVs in glutathione S-transferase M1 (GSTM1) gene and determine its genetic contribution in Tunisian rheumatoid arthritis (RA) and its subsets through an innovative technique for quantification.

Methods: A total of 165 RA cases and 102 healthy controls were included in the study.

Association study of human leukocyte antigen-DRB1 alleles with rheumatoid arthritis in south Tunisian patients.

The aim of this study is to explore relationship between HLA-DRB1 alleles and the susceptibility and clinical features of rheumatoid arthritis (RA) in the south Tunisian population. We studied 142 RA patients and 123 controls matched for age, sex, and ethnicity. HLA-DRB1 genotyping and HLA-DRB1*04 subtypes were performed using polymerase chain reaction/sequence-specific primers.

Association and frequency of HLA-A, B and HLA-DR genes in south Tunisian patients with spondyloarthritis (SpA).

The aim of this study is to investigate the association of HLA-A, B and HLA-DR gene expression and to assess an association of additional HLA antigens besides HLA-B27 in south Tunisian patients with spondyloarthritis (SpA). Eighty-five patients diagnosed with ankylosing spondylitis (AS, n=68) and reactive arthrithis (ReA, n=17) were selected and compared with 100 healthy controls (HC). HLA class I antigens were typed serologically using microlymphocytotoxicity technique.

Analysis of skewed X-chromosome inactivation in females with rheumatoid arthritis and autoimmune thyroid diseases.

Introduction: The majority of autoimmune diseases such as rheumatoid arthritis (RA) and autoimmune thyroid diseases (AITDs) are characterized by a striking female predominance superimposed on a predisposing genetic background. The role of extremely skewed X-chromosome inactivation (XCI) has been questioned in the pathogenesis of several autoimmune diseases.

Methods: We examined XCI profiles of females affected with RA (n = 106), AITDs (n = 145) and age-matched healthy women (n = 257).

Clinical and diagnostic value of ribosomal P autoantibodies in systemic lupus erythematosus.

Objective: To analyse prospectively the diagnostic sensitivity and specificity as well as the clinical relevance of ribosomal P (anti-P) autoantibodies in a large cohort of SLE patients.

Methods: The anti-P autoantibodies were evaluated in the serum of 200 Tunisian SLE patients at disease onset and 130 various control subjects by a sensitive immunodot assay. A complete laboratory evaluation and clinical examination were performed in each SLE patient.

The R620W polymorphism of the protein tyrosine phosphatase 22 gene in autoimmune thyroid diseases and rheumatoid arthritis in the Tunisian population.

Background: Protein tyrosine phosphatase (PTPN22) is involved in the negative regulation of T-cell responsiveness. The association of a coding variant of the PTPN22 gene (R620W) with a number of autoimmune diseases has been described.

Aim: The present study investigated whether PTPN22 gene polymorphism was also involved in the genetic predisposition to autoimmune thyroid diseases (AITDs) and rheumatoid arthritis (RA) in a Tunisian case control study.

Clinical and immunological manifestations of systemic lupus erythematosus: study on 146 south Tunisian patients.

The objective of this study was to determine the main clinical and laboratory features as well as the morbidity and mortality of systemic lupus erythematosus (SLE) in a population of patients predominantly from the south of Tunisia. A retrospective review of a well documented population of 146 patients with SLE was undertaken. All patients fulfilled four or more criteria defined by the American College of Rheumatology.

[Mortality and prognostic factors in 146 patients with systemic lupus erythematosus in southern Tunisia].

Objectives: The objective of this study was to analyze the survival rate, causes of death, and prognostic factors in patients with systemic lupus erythematosus (SLE), mainly from southern Tunisia.

Methods: This retrospective study examined the records of 146 Tunisian patients with SLE, all meeting at least 4 of the American College of Rheumatology criteria for this diagnosis.

Results: The mean age at presentation of these patients (126 women and 20 men) was 29.