Publications by authors named "Vignesh P"

Objective: To study the clinical features and laboratory parameters of neonatal lupus erythematosus (NLE) from India.

Patients And Methods: We analyzed case records of children diagnosed with NLE in the Pediatric Rheumatology Clinic at tertiary care centre from North India during the period January 1999 - December 2023.

Results: Twenty-four babies are diagnosed with NLE during the study period.

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  • X-linked agammaglobulinemia (XLA) is caused by a mutation in the Bruton's tyrosine kinase (BTK) gene, which prevents B cell development, resulting in low antibody levels and increased vulnerability to infections.
  • Patients with XLA often suffer from recurrent bacterial infections, but can also face serious and rare fungal infections, as seen in a case involving a 3.5-year-old boy with disseminated aspergillosis who ultimately did not survive despite antifungal treatment.
  • Genetic analysis confirmed a specific mutation in the BTK gene, underlining the severe immune system issues associated with XLA that extend beyond just B-cell deficiencies.
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  • Hereditary angioedema (HAE) is a rare genetic disorder that presents differently in children versus adults, and research is limited in developing countries where treatments are often inaccessible.
  • In a study of 206 HAE patients, 61 were children under 18, with a median age of symptom onset at 6.2 years and diagnosis at 10.7 years, showing a median diagnostic delay of nearly 5 years.
  • The most common symptoms in children included facial swelling and extremity swelling, while gastrointestinal symptoms were less frequent compared to adults; the study represents the largest pediatric HAE cohort from a resource-constrained setting.
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Background: Anti-MDA5 autoantibody-positive dermatomyositis (MDA5-DM) is associated with clinically amyopathic forms and rapidly progressive interstitial lung disease (ILD); however, data in children are limited. In this study, we described our cohort of anti-MDA5-positive juvenile DM (MDA5-JDM) from a tertiary care center in North India.

Methods: We performed a retrospective analysis of children with MDA5-JDM who were diagnosed and followed up at our center and compared them with our anti-MDA5-negative cohort.

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Background: Only limited information exists regarding the epidemiology of Kawasaki disease (KD) in low-income and middle-income countries. The present study provides the incidence of KD during 2015-2019 in Chandigarh, north India. Our centre follows the largest KD cohort in India.

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Article Synopsis
  • Transthoracic echocardiography (TTE) is commonly used for evaluating coronary artery lesions in children with Kawasaki disease (KD), but this study found it to be less effective than computed tomography coronary angiography (CTCA).
  • In a 9-year study of 225 children with KD, CTCA identified coronary artery lesions in 41 patients (18.2%), while TTE only detected lesions in a third of those cases (36.6%).
  • The findings suggest that CTCA is a more reliable imaging option for assessing coronary artery involvement in KD, which could influence treatment and monitoring strategies.
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Introduction: Inborn errors of immunity (IEI) are a group of genetically heterogeneous disorders with a wide-ranging clinical phenotype, varying from increased predisposition to infections to dysregulation of the immune system, including autoimmune phenomena, autoinflammatory disorders, lymphoproliferation, and malignancy. Lymphoproliferative disorder (LPD) in IEI refers to the nodal or extra-nodal and persistent or recurrent clonal or non-clonal proliferation of lymphoid cells in the clinical context of an inherited immunodeficiency or immune dysregulation. The Epstein-Barr virus (EBV) plays a significant role in the etiopathogenesis of LPD in IEIs.

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Kimura's disease (KD) is a chronic inflammatory disorder characterized by nontender lymphadenopathy involving the head and neck region. Renal involvement in KD is rare, especially in children. We report a 12-year-old boy who had been previously treated for classical KD and had presented with anasarca and oliguria after 4 years.

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  • X-linked lymphoproliferative syndrome (XLP) is a rare genetic immune deficiency with two types: XLP-1 and XLP-2, identified in a study of 7 patients from a Pediatric Immunodeficiency Clinic.
  • Patients were diagnosed at an average age of 3.8 years, with many experiencing recurrent infections and episodes of hemophagocytic lymphohistiocytosis (HLH), particularly in those with XLP-2.
  • Genetic analysis revealed known and novel gene variants, leading to various treatments, including immunoglobulin therapy and stem cell transplantation; however, one patient with XLP-2 and Wiskott-Aldrich syndrome died from pneumonia.
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Unlabelled: Soil salinity and saline irrigation water are major constraints in sugarcane affecting the production of cane and sugar yield. To understand the salinity induced responses and to identify novel genomic resources, integrated de novo transcriptome and small RNA sequencing in sugarcane wild relative, salt tolerant accession IND 99-907 and salt-sensitive sugarcane genotype Co 97010 were performed. A total of 362 known miRNAs belonging to 62 families and 353 miRNAs belonging to 63 families were abundant in IND 99-907 and Co 97010 respectively.

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  • Researchers studied two young patients with STAT1 GOF who died from severe COVID-19 complications, revealing problematic immune responses to the virus.
  • Genetic testing identified two specific mutations in the STAT1 gene, which led to an overactive immune response that may have contributed to their rapid decline post-infection.
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Therapeutic management of inflammation in infectious keratitis (IK) requires new strategy and targets for selective immunomodulation. Targeting host cell-type specific inflammatory responses might be a viable strategy to curtail unnecessary inflammation and reduce tissue damage without affecting pathogen clearance. This study explores the possibility of pathogen and host cell-type dependent differences in the inflammatory pathways relevant in the pathogenesis of IK.

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Chronic granulomatous disease (CGD) is a phagocytic defect characterized by recurrent bacterial and fungal infections. We report clinical profile of patients with CGD and mycobacterial infections in a cohort from North India. A review of clinical and laboratory records was carried out for patients with CGD registered at our center between 1990 and 2021.

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Infections with non-typhoidal Salmonella sp. have been documented in children with chronic granulomatous disease (CGD), but the prevalence of salmonella infection in children with CGD in underdeveloped countries is unknown. We assessed the clinical profiles of CGD patients diagnosed at our tertiary care centre in north India and had Salmonella sp.

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Prolidase deficiency (PD) is a rare autosomal recessive disorder associated with recurrent infections, immune dysregulation, and autoimmunity. PD is characterized by persistent dermatitis, skin fragility, and non-healing ulcerations on the lower limbs as its main dermatologic characteristics. Herein, we report a boy with PD due to a novel variant in PEPD who had abnormal facies, cognitive impairment, corneal opacity, recurrent infections, and persistent non-healing leg ulcers.

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Day-to-day clinical management of patients with inborn errors of immunity, including chronic granulomatous disease (CGD), has been affected by the coronavirus disease-2019 (COVID-19) pandemic. There is a dearth of information on impact of this pandemic on clinical care of children with CGD and psychological profile of the caretakers. Among the 101 patients with CGD followed up in our center, 5 children developed infection/complications associated with COVID-19.

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