Neurological and Vascular Behçet's Disease in a Young Male without Classic Triad of Behçet's Disease: A Case Report and Literature Review.

Introduction: Neuro-Behçet's disease (NBD) is an uncommon presentation in Behçet's disease (BD) with severe course and worse prognosis. Both vascular and NBD presentation without the classical triad of BD in a single patient is rarely reported. Case Presentation: Here a 48-year-old male had an extensive aortic aneurysm eroding vertebra for which he was diagnosed as vascular BD. Two years later, he was presented with a severe headache and cerebrovascular accident, his brain imaging showed hyperintensity in the right thalamus, basal ganglia, temporal lobe, and internal capsule, suggesting the 'cascade sign' of NBD. Surprisingly, he never had oral or genital ulcers or skin and eye involvement. He had a good response to infliximab. Conclusion: Clustering of BD phenotype is an emerging area of interest. It is hypothesised that severe phenotype of vascular and parenchymal NBD can happen in the same patient owing to similar underlying pathology. This case is unique due to its severe phenotype with no features of the typical triad of BD.

Immunoglobulin G4-Related Lesions in Autoimmune Diseases: Unusual Presentations at Atypical Sites-A Tale of 2 Cases with Literature Review.

Immunoglobulin G4-related disease (IgG4-RD) coexisting with clinically apparent autoimmune diseases, such as rheumatoid arthritis (RA) or antiphospholipid syndrome (APS), is a rarely documented combination in the scientific literature. In this case-based review, we present 2 intriguing cases with preexisting autoimmune diseases, namely, RA and primary APS, who exhibited coexistent IgG4- related lesions at unusual sites. The first case pertains to a patient with known RA who presented with an encasing mass in the esophagus leading to stricture, with histopathological diagnosis of IgG4-RD.The second patient, diagnosed with primary APS, experienced breathlessness, and imaging revealed a right atrial mass. Histopathological examination of the mass confirmed IgG4-RD. Notably, both patients demonstrated significant clinical improvement upon initiation of steroid therapy. Rheumatoid arthritis patients commonly exhibit elevated levels of IgG4 in their sera; however, RA with coexisting IgG4-RD is rarely reported in the literature. Similarly, APS with IgG4-related lesions is exceedingly rare. Although there are few case reports and series on esophageal and cardiac IgG4-RD, the occurrence of such unusual location of IgG4-related lesions in the context of known autoimmunity is presented here for the first time.

Serum interferon-alpha predicts in-hospital mortality in patients hospitalised with acute severe lupus.

OBJECTIVES: Dysregulation of interferon-alpha (IFN-α) is considered central to the immunological abnormalities observed in SLE. Short-term mortality during high disease activity in lupus is up to 30%. Adenovirus vector-introduced IFN-α into a lupus-prone mouse causes the development of glomerulonephritis and death within weeks. We studied serum IFN-α as a biomarker of in-hospital mortality in patients of SLE with high disease activity. METHODS: Serum IFN-α (ELISA) was measured in patients hospitalised for acute severe lupus in a tertiary care rheumatology unit in India and the levels were compared between survivors and non-survivors. Serum IFN-α was compared with traditional clinical and serological markers associated with disease activity to assess which better prognosticates survival. RESULTS: In a cohort of 90 patients with a mean Systemic Lupus Erythematosus Disease Activity Index (SLEDAI) of 19.3 (±5.5), the mean serum IFN-α was 88±144 pg/dL. Levels were undetectable in patients with inactive disease. SLEDAI, anti double stranded DNA (dsDNA) antibody titres and serum IFN-α levels were higher and serum complement (C3) lower in non-survivors (p=0.003, p=0.017, p<0.001, p=0.029, respectively). Serum IFN-α level of 140 pg/mL had a sensitivity of 86.7%, specificity of 94.6%, positive predictive value of 76% and negative predictive value of 83.3% (p<0.001) in predicting mortality. The area under the curve for predicting in-hospital mortality was 0.25 for C3, 0.72 for dsDNA, 0.77 for SLEDAI and 0.92 for serum IFN-α. CONCLUSIONS: Serum IFN-α was better in predicting in-hospital mortality compared with conventional measures of disease activity such as anti-dsDNA, complements and SLEDAI.

Distinct NOD2 mutations reported in three families with Blau syndrome (BS) from a single center in India - Case series and review of literature.

OBJECTIVE: Blau syndrome (BS), considered a rare pediatric autoinflammatory disease, is characterised by a triad of granulomatous arthritis, dermatitis and uveitis. Here we present a tale of three families visited in our outpatient department in the last two years (2020-2022) where more than one member was affected with either skin, ophthalmological and joint involvement with either biopsy-proven granuloma or genetic mutation at NOD2 gene suggesting the diagnosis of BS. CASE SERIES: The first family had three affected members where the mother and her two children had skin changes, polyarthritis and a pathogenic mutation in NOD2 gene (exon 4, c.1000C > T, p.Arg334Trp) suggesting BS. The second family had two affected members where both mother and her son had uveitis, skin changes with NOD2 mutation at exon 4 with c.1147G > A (p Glu 383 Lys) variant. The son also had polyarthritis and his skin biopsy was suggestive of granulomatous inflammation. In the third family with two affected members, we found a mutation in NOD2 on exon 4 (c 1324C > T, p.Lys 442 Phe) which was described as pathogenic with only one report published till date. CONCLUSION: These three cases presented to us within the last two years and led to a diagnosis of BS in three other family members with discrete mutations (commonest to rarest) on the NOD2 gene in the three families.

A Case of SAPHO Syndrome Complicated by Uveitis with Good Response to Both TNF Inhibitor and JAKinib.

Introduction: SAPHO (synovitis, acne, pustulosis, hyperostosis, and osteitis) syndrome is a rare autoinflammatory condition describing the constellation of inflammatory skin, bone, and joint manifestations which result in diagnostic difficulty and therapeutic challenge. Case: Here, we present a case of a young male diagnosed with SAPHO syndrome with osteoarticular and cutaneous involvement from an early age in his life. He suffered diagnostic challenges for a long time and was hence inadequately treated. He had minimal response to conventional DMARDs but showed excellent response to TNF inhibitor (adalimumab). Later, he defaulted treatment and presented with acute anterior uveitis which was also dramatically improved with adalimumab and tofacitinib although financial constraint was always an issue for the patient. Conclusion: The uniqueness of this case was that the patient had a multiorgan involvement including osteoarticular system, skin, and eye. Both TNFi (adalimumab) and JAKinib (tofacitinib) had a good response to all organs with a net improvement in the quality of life of this patient.

Posterior reversible encephalopathy syndrome in juvenile lupus- a case series and literature review.

INTRODUCTION: PRES, as a complication of juvenile lupus, is rarely reported in the literature. In this study, six juvenile lupus patients admitted with diagnosis of PRES were assessed on the basis of clinical characteristics, imaging findings, disease activity status, treatment response and prognosis. METHODOLOGY: Six juvenile (≤ 16 years) lupus patients with a diagnosis of PRES were included. Demographic, clinical, and laboratory features and outcomes of all six patients were noted. Literature review was performed on PubMed search forum. Search terms in English included Juvenile SLE, Lupus and PRES. RESULT: The youngest patient was seven years old while the oldest was sixteen years. All patients had history of lupus nephritis , presented with seizure and hypertension. In imaging, four out of six patients had hyperintensities in atypical distribution suggesting atypical PRES. All the patients had significant clinical recovery with resolution of hyperintensities in five out of six patients on repeat imaging. CONCLUSION: Juvenile lupus with PRES is considered an unusual neurologic manifestation triggered by multiple factors. It can be stipulated that PRES in juvenile lupus cases often remain undiagnosed. Early suspicion and treatment institution with reversal of triggers can result in a favorable outcome in these patients.

Postpartum Myasthenic Crisis in a Patient with SLE: A Case Report and Literature Review.

Background: Systemic lupus erythematosus (SLE) is a multisystem autoimmune disease characterized by the presence of numerous autoantibodies while Myasthenia Gravis (MG) is an organ-specific autoimmune disease. The coexistence of both diseases is rarely reported in the literature. Case presentation: We report a case of a 29-year-old female SLE patient with chief manifestations of nephritis, inflammatory polyarthritis and cytopenia presented with postpartum shortness of breath and dysphagia requiring emergency intubation and difficulty in weaning. Later she developed chronic respiratory acidosis with bilateral ptosis. Her diagnosis of myasthenia was confirmed with a positive neostigmine test and nAChR antibodies. She was given 5 cycles of PLEX and pyridostigmine with significant improvement of symptoms and extubated safely. Conclusion: It is one of the rare case reports of SLE preceding MG with significant improvement by anticholinergic therapy.

A review of COVID-19 convalescent plasma use in COVID-19 with focus on proof of efficacy.

Convalescent plasma (CP) therapy is rapidly becoming an established consideration in the treatment of COVID-19 patients though there is a need to critically review this area for proof of efficacy. Neutralizing antibodies (NAb) present in CP generated in response to SARS-CoV-2 infection directed against the receptor-binding domain (RBD) of the spike protein are considered to play main role in viral clearance. CP infusion may also help in the modulation of immune response by its immunomodulatory effect. The FDA allows for administration of CP to COVID-19 patients. The present published literature in COVID-19 is limited to case series and randomised controlled trial where plasma therapy was used in moderate, severe and critically ill patients. Though multiple uncertainties exist regarding to its efficacy, appropriate donor selection and NAb titres, the efficacy data of CP use inCOVID-19 is limited having shown hope with early and severe to critically ill COVID-19 patients.

Bronchiolitis obliterans organizing pneumonia as the pulmonary manifestation of lupus: A review of three cases.

OBJECTIVE: Bronchiolitis obliterans organizing pneumonia (BOOP) is a clinico-patho-radiological diagnosis which rarely presents as a pulmonary manifestation of lupus. In this concise report, organizing pneumonia was found as the sole pulmonary manifestation of SLE in different age groups. METHOD: All three patients diagnosed with SLE according to SLICC 2012 classification criteria, were admitted in rheumatology ward of NIMS hospital, Hyderabad, India from May to November, 2018. Their diagnosis of BOOP was either biopsy proven or imaging guided. Review of literature was done with MeSH terms (SLE, BOOP) in PubMed and approximately 10 articles were reviewed including latest of 2019 published in Scientific Reports. RESULT: There were three patients - one juvenile lupus and two adults. Two patients were male and one female. All three patients had SLE with high disease activity. They all had organising pneumonia as pulmonary manifestation with other organ involvement. Juvenile patient had a fatal outcome while the others had a good recovery with steroid and immunosuppressive. CONCLUSION: BOOP is a rare pulmonary manifestation in lupus. It can be diagnosed early with more precision using computerised tomography of lung without waiting for biopsy report. This will result in a better prognosis by rapid initiation of corticosteroid and immunosuppressive treatment.