Polycystic ovary syndrome (PCOS) is the leading cause of endocrine disorders among females of reproductive age and is linked with autoimmune disorders. PCOS has been associated with autoantibodies such as antinuclear antibody (ANA), anti-thyroid, and anti-Smith (anti-SM). Young patients with PCOS and systemic lupus erythematosus (SLE) have up to a 10-fold increase in stroke. We present a case of a patient with a history of PCOS (on metformin), hypothyroidism, and pulmonary embolism who presented to the emergency room with acute left-sided weakness. She was extensively investigated for risk factors and was eventually diagnosed with a cerebrovascular accident secondary to possible SLE with positive ANA (1:160, nuclear homogenous pattern). The diagnosis of PCOS, coupled with autoantibodies and recurring episodes of thromboembolic events, rendered her case management complex. She received tenecteplase and had thrombectomy done twice because of recurrent thrombotic events during her hospital stay. She passed away on the fifth day post-thrombectomy from a possible massive pulmonary embolism with hemodynamic compromise. There is a need for more research to comprehend the underlying mechanisms of SLE and PCOS to guide the proper management of patients in this situation.

Bile acid synthesis disorders (BASD) are a group of rare autosomal recessive disorders. Of the nine different versions, BASD type 4 is characterized by a gene mutation in alpha-methylacyl-CoA racemase (AMACR), which is located on chromosome 5p13. These disorders generally present with a normal gamma-glutamyl transferase with cholestasis, absence of pruritis, and malabsorption of fat, which can lead to fat-soluble vitamin deficiencies. In adulthood, patients usually develop neurological sequelae. Initial testing can be done through the measurement of urine metabolites; however, confirmation of the diagnosis is achieved through whole exome sequencing. Treatment involves supplementation of oral cholic acid and modification of diet. Only 23 patients with this disease have been described. Here, we report two cases of siblings from a family in Bahrain with a novel AMACR mutation and a unique association with autoimmune antibodies alongside a literature review.

Pemphigus is classified as a group of chronic, recurrent, and potentially fatal bullous autoimmune diseases that leads to blisters and skin lesions resulting from IgG antibodies and the loss of cellular connections in the epidermis. Human endogenous retrovirus (HERV) sequences and their products (RNA, cytosolic DNA, and proteins) can modulate the immune system and contribute to autoimmunity. The extent to which, HERV-W env copies may be involved in the pathogenesis of pemphigus remains to be elucidated.
This study aimed to comparatively evaluate the relative levels of HERV-W env DNA copy numbers in the peripheral blood mononuclear cells (PBMCs) of pemphigus vulgaris patients and healthy controls.
Thirty-one pemphigus patients and the corresponding age- and sex-matched healthy controls were included in the study. The relative levels of HERV-W env DNA copy numbers were then evaluated by qPCR using specific primers, in the PBMCs of the patients and controls.
Our results indicated that relative levels of HERV-W env DNA copy numbers in the patients were significantly higher than that in the controls (1.67±0.86 vs. 1.17±0.75; p = 0.02). There was also a significant difference between the HERV-W env copies of male and female patients (p = 0.001). Furthermore, there was no relationship between the HERV-W env copy number and disease onset (p = 0.19) . According to the obtained data, we could not find any relationship between the HERV-W env copy number and serum Dsg1(p=0.86) and Dsg3 (p=0.76) levels.
Our results indicated a positive link between the HERV-W env copies and pathogenesis of pemphigus. The association between clinical severity score and HERVW env copies in the PBMCs as a biomarker for pemphigus needs further studies.

Dermatomyositis (DM) is a systemic autoimmune disease that affects skeletal muscles, the skin, and the lungs. It is characterized by autoantibodies, tissue inflammation, parenchymal cell damage, death, and vasculopathy. In terms of epidemiology, DM affects both children and adults. The current pathophysiology of DM is described as an autoimmune attack on the afflicted organs driven by environmental variables such as UV exposure, medications, infections, and lifestyle choices in genetically predisposed people. DM is also a paraneoplastic condition, which means that cancer may arise before, along with, or following the development of the symptoms of DM. Myositis-specific autoantibodies are associated with phenotypical features and are used for sub-classification of dermatomyositis patients. Because the risk of interstitial lung disease (ILD), internal malignancy, destructive disease trajectory, and maybe a response to medication differs by DM myositis-specific antibody (MSA) group, a better knowledge of MSAs and the validation and standardization of tests employed for detection is crucial for improving diagnosis and treatment. The diagnostic sensitivity and specificity of tests for various MSAs are not ideal, just like with any other test. However, more antibody tests are anticipated to make their way into formal schemata for diagnosis and actionable risk assessment in DM due to worldwide standardization and more extensive research. In this review, we outline crucial aspects for interpreting clinical and pathologic relationships with MSA in DM and critical knowledge and practice gaps that will optimize the clinical benefit and utility of MSAs as diagnostic and prognostic markers.

UNASSIGNED: The aim of this study was to evaluate the indications, adverse reactions, and outcome of therapeutic plasma exchange (TPE) in myasthenia gravis (MG) patients.
UNASSIGNED: Retrospective Observational study.
UNASSIGNED: A total of 18 patients of MG had undergone 18 cycles and 87 session of TPE at our Institution, a tertiary care center in Western India. It was performed using a single volume plasma exchange with intermittent cell separator (Freseniouscomtec), subclavian central line access, and with alternate day interval. Outcome was assessed shortly after each session and overall outcome at the time of discharge.
UNASSIGNED: Total of 68 patients of MG were admitted to Neurology Intensive care unit (ICU) during the study period [January 2016-December 2019]. Out of them, TPE was done in 18 patients. Among the 18 patients, 11 patients had myasthenic crisis and 7 patients had worsening of MG. The mean number of TPE session was 4.2(SD ± 1.2), volume exchange was 2215 ml (SD ± 435); overall incidence of adverse reaction was 33.3%. All patients had immediate benefits of each TPE cycle. Good acceptance of procedure was observed in 72.2% of patients.
UNASSIGNED: TPE is cost-effective rapid therapy for myasthenic crisis and progressive myasthenia gravis. It reduces ICU stays and improves outcome.

Systemic lupus erythematosus (SLE) is an inflammatory autoimmune disease which is characterized by dysregulation of various cytokines propagating the inflammatory processes that is responsible for tissue damage. Tumor necrosis factor alpha (TNF-α) is one of the most important immunoregulatory cytokines that has been implicated in the different autoimmune diseases including SLE. Two hundred and two patients with SLE and 318 controls were included in the study. The TNF-α gene promoter region (from - 250 to - 1000 base pairs) was analyzed by direct Sanger\'s DNA sequencing method to find promoter variants associated with South Indian SLE patients. We have analyzed six TNF-α genetic polymorphisms including, - 863C/A (rs1800630), - 857C/T (rs1799724), - 806C/T (rs4248158), - 646G/A (rs4248160), - 572A/C (rs4248161) and - 308G/A (rs1800629) in both SLE patients and controls. We did not find association of TNF-α gene promoter SNPs with SLE patients. However, the - 863A (rs1800630) allele showed association with lupus nephritis phenotype in patients with SLE (OR: 1.62, 95%CI 1.04-2.53, P = 0.034). We found serum TNF-α level was significantly elevated in SLE cases as compared to control and found no association with any of the polymorphisms. The haplotype analysis revealed a significant protective association between the wild TNF-α alleles at positions - 863C, - 857C, - 806C, - 646G, - 572A and - 308G (CCCGAG) haplotype with lupus nephritis phenotype (OR 0.53, 95% CI 0.35-0.82, P = 0.004). Additionally, the TNF-α - 863 C/A (rs1800630) polymorphism and HLA-DRB1*07 haplotype showed significant differences between SLE patients and controls (OR 4.79, 95% CI 1.73-13.29, P = 0.0009). In conclusion, TNF-α - 863A allele (rs1800630) polymorphism is associated with increased risk of nephritis in South Indian SLE patients. We also found an interaction between HLA-DRB1*07 allele with TNF-α - 863 C/A promoter polymorphism giving supportive evidence for the tight linkage disequilibrium between TNF-α promoter SNPs and MHC class II DRB1 alleles.

In the diagnostic work up of autoimmune gastritis several immunological methods are available for the detection of antibodies against Intrinsic Factor (IF) and Parietal Cells (PC). However, there are no recent reports directly comparing all the available assays and methods. The objective of this study was to compare the performance of several commercially available anti-IF and anti-PC antibody assays from different manufacturers in a multi-center multi-cohort setting.
Sera were used from 5 different cohorts consisting of samples from 25 healthy elderly, 20 HCV or HIV positive patients and 150 patients positive for anti-IF or anti-PC antibodies or in whom these antibodies were requested. These cohorts were tested for anti-IF antibodies with 6 different assays (IIF, ELISA, DIA and EliA) and for anti-PC antibodies with 7 different assays (IIF, ELISA, DIA and EliA). Performance was evaluated by calculating the concordance and relative sensitivity and specificity.
Good concordance was found between the assays for both antibody specificities, ranging from 81 to 100% and 91-100% for anti-IF and anti-PC antibodies, respectively. Highest relative sensitivity was found with the (automated) ELISA based methods. However, all assays had a relative sensitivity between 85 and 100% for anti-IF antibodies and between 95 and 100% for anti-PC antibodies. The relative specificity ranged between 76 and 100% for anti-IF antibodies and between 96 and 100% for anti-PC antibodies.
We conclude that most assays perform well and are concordant to each other, despite the methodological differences and the different sources of antigen used. However, the method used affects the sensitivity and specificity. The (automated) ELISA based assays have the highest relative sensitivity and relative specificity. Care should be taken in the interpretation of positive results by IIF and negative results by the Blue Diver when testing for anti-IF antibodies.

BACKGROUND: Systemic sclerosis is a rare auto immune disease characterized by a local or diffuse skin condition and a variable visceral impairment. Anti nuclear antibodies (ANA) can be found in 95 % of patients. The most frequent are the anti topoisomerase 1 or anti Scl 70 and the anti-centromeres. Other antibodies have been reported but they are not conventionally sought in clinical practice. They are referred to as \" non identified \" ANA.
OBJECTIVE: To seek the \" non identified \" antibodies in patients with scleroderma at Erasme Hospital, to assess their prevalence in this cohort and to correlate their presence with the clinical characteristics.
METHODS: 89 patients out of the cohort of Erasme hospital patients with scleroderma have been looked at. Their clinical and biological data have been identified and a detection of antibodies have been performed by first an immonudot technique and second an EliA technique.
RESULTS: 17 out of the 89 patients of our cohort had \" non identified \" ANA. Among them, antibodies in 11 patients have been identified by the immunodot, among which 7 anti-PmScl 75 and/or 100,3 RNA polymerase III and 1 antifibrillarin. The EliA technique identif ied antibodies in 10 patients among which 5 anti- PmScl, 2 anti RNA polymerase, 2 anti-fibrillarin and 1 anti-centromere.
CONCLUSIONS: Auto antibodies other than the antitopoisomerase and anti-centromere have been found in patients with scleroderma in our cohort. Certain links exist between the presence of a given antibody and clinical features. We still have to define whether there exist other auto antibodies of which we still are unaware since in some patient no antibodies were detected.
BACKGROUND: La sclérodermie systémique est une maladie auto-immune rare caractérisée par une atteinte cutanée locale ou diffuse ainsi qu’une atteinte viscérale variable. On retrouve des facteurs anti-nucléaires (FAN) chez environ 95 % des malades, dont les plus fréquents sont les anti-topoisomérase I (ou anti-Scl 70) et les anticentromères. D’autres auto-anticorps ont été décrits mais ceux-ci ne sont pas classiquement recherchés en pratique clinique, on les dénomme alors \" FAN non identifiés \".
UNASSIGNED: Rechercher les anticorps \" non identifiés \" chez les patients sclérodermiques de l’hôpital Erasme, établir leur prévalence dans cette cohorte et corréler leur présence avec les caractéristiques cliniques.
UNASSIGNED: Quatre-vingt-neuf patients issus de la cohorte des patients sclérodermiques de l’hôpital Erasme ont été étudiés. Leurs données cliniques et biologiques ont été relevées, puis une détection d’anticorps a été effectuée d’une part par une technique d’immunodot (topoisomérase I, centromères, ARN polymérase III, fibrillarine, Pm/Scl 75 et 100, PDGFR, NOR 90, Ku et Ro 52) et d’autre part par une technique EliA (topoisomérase I, centromères, ARN polymérase III, fibrillarine et PmScl).
UNASSIGNED: Dix-sept des 89 patients de notre cohorte avaient des FAN \" non identifiés \". Parmi ceux-ci, l’immunodot a identifié des anticorps chez 11 patients dont 7 anti-PmScl 75 et/ou 100, 3 anti-ARN pol III et 1 anti-fibrillarine. La technique EliA a permis d’identifier des anticorps chez 10 patients dont 5 anti-PmScl, 2 anti-ARN pol III, 2 anti-fibrillarine et 1 anti-centromère.
CONCLUSIONS: Des auto-anticorps autres que les anti-topoisomérase I et anti-centromères ont été retrouvés chez les patients sclérodermiques de notre cohorte. Il existe certains liens entre la présence d’un anticorps donné et la clinique associée. Il reste à définir s’il existe d’autres auto-anticorps qui ne sont pas encore connus puisque chez certains patients, aucun anticorps n’a été mis en évidence.

BACKGROUND: Sensorineural hearing loss (SNHL) and vestibular dysfunction have been described in various autoimmune disorders and systemic vasculitides. A high prevalence of SNHL is reported to occur in established rheumatologic diseases; however, immunologic and rheumatologic disorders make up a small proportion of patients with sudden sensorineural hearing loss (SSNHL).
OBJECTIVE: This prospective study was carried out in order to determine the prevalence of rheumatologic and immunologic disorders in patients with SSNHL in Northeast Iran.
METHODS: Patients with a diagnosis of SSNHL referred to our University Hospital were enrolled in this prospective study conducted over a period of 3 years. Immunology-rheumatology evaluations were performed in all patients, including detailed history, physical exams and laboratory tests such as erythrocyte sedimentation rate (ESR), antinuclear antibody (ANA), rheumatoid factor (RF), anti neutrophil cytoplasmic antibody (PR3, c-ANCA), perinuclear anti neutrophil cytoplasmic antibody (p-ANCA), antiphospholipid antibody, anti-cyclic citrullinated peptide (ACCP), and complement proteins C3 and C4.
RESULTS: Eighty-three patients with a mean age of 42.04±16.94 years were admitted into the study. The female-to-male ratio was 47% to 53%. ANA was positive in one patient, RF in six, p-ANCA in two, ACCP in one, and antiphospholipid antibody was positive in three patients with low titers. No diagnosis of rheumatologic diseases was detected, except for one patient who was diagnosed with primary Sjögren\'s syndrome. Fewer than 5% all cases had specific positive immunologic tests.
CONCLUSIONS: The low frequency of immunology-rheumatology positive tests and disorders in our patients with SSNHL indicates that it is not reasonable to routinely perform all related tests for every patient. Instead, clinical evaluations should be used to decide whether or not to conduct these tests.

Immunoglobulin A (IgA) nephropathy is one of the most common glomerulonephritis and its frequency is probably underestimated because in most patients the disease has an indolent course and the kidney biopsy is essential for the diagnosis. In the last years its pathogenesis has been better identified even if still now several questions remain to be answered. The genetic wide association studies have allowed to identifying the relevance of genetics and several putative genes have been identified. The genetics has also allowed explaining why some ancestral groups are affected with higher frequency. To date is clear that IgA nephropathy is related to auto antibodies against immunoglobulin A1 (IgA1) with poor O-glycosylation. The role of mucosal infections is confirmed, but which are the pathogens involved and which is the role of Toll-like receptor polymorphism is less clear. Similarly to date whether the disease is due to the circulating immunocomplexes deposition on the mesangium or whether the antigen is already present on the mesangial cell as a \"lanthanic\" deposition remains to be clarified. Finally also the link between the mesangial and the podocyte injury and the tubulointerstitial scarring, as well as the mechanisms involved need to be better clarified.