Publications by authors named "Amit Rawat"
Background: Hereditary angioedema (HAE) is characterized by unpredictable acute attacks that impair the patient's quality of life (QoL) not only due to the impact on functional abilities caused by edema but also due to pain and other symptoms, including fatigue, nausea, and vomiting.
Objectives: QoL studies in patients with HAE have not been carried out in the Indian subcontinent. Hence, we carried out this study to assess the QoL and to identify factors associated with impaired QoL in patients with HAE.
Etiology of Kawasaki disease (KD) remains an enigma despite more than 50 years of extensive research. There is evidence that concurrent infections may play a role in the pathogenesis of KD. The present study reports various infections identified in a large cohort of patients with KD in Northwest India.
View Article and Find Full Text PDFIntroduction: 22q11.2 deletion is associated with conotruncal anomalies and immunological aberrations. Given the common embryonic origin of conotruncus and thymus, conotruncal anomalies may be associated with immunological aberrations irrespective of 22q11.
View Article and Find Full Text PDFObjective: 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.
Article Synopsis
- 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.
Article Synopsis
- 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.
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.
Incidence of Kawasaki disease among children in Chandigarh, India during 2015-2019: a trend analysis.
Lancet Reg Health Southeast Asia
October 2024
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.
View Article and Find Full Text PDFArticle Synopsis
- The report focuses on two Indian brothers and a Chinese patient who experience somatic reversion of harmful mutations in the WAS gene, which affects immune function.
- Both Indian siblings inherited a specific deletion mutation from their mother that caused a frameshift, but also presented a second deletion variant that restored the gene’s reading frame.
- The Chinese patient had a novel duplication mutation leading to a frameshift and was found to have both mutated and normal sequences in different blood cell types, with the reversion occurring selectively in T lymphocytes.
Article Synopsis
- Kawasaki disease (KD) is a serious condition primarily affecting children, characterized by fever and inflammation of medium blood vessels, but its exact causes are still unclear despite ongoing research.
- Recent advancements in single-cell RNA sequencing (scRNA-seq) have enhanced our ability to study the immune response and molecular pathways involved in KD, offering insights beyond what was previously possible.
- This article highlights how scRNA-seq can identify specific immune cell behaviors and potential treatment strategies, aiming to improve diagnostic and therapeutic approaches for KD in the future.
Article Synopsis
- - The study investigates Hyper IgE Syndrome (HIES), specifically how loss of function in the STAT3 gene leads to symptoms like recurrent infections and elevated IgE levels due to impaired immune responses.
- - Researchers focused on the unphosphorylated STAT3 and NF-κB (uSTAT3-uNF-κB) activation pathway, analyzing gene expression in patients and mutant plasmids after stimulation.
- - Results showed reduced expression of key signaling molecules and less interaction between STAT3 and NF-κB in HIES patients, indicating that the impaired uSTAT3-uNF-κB pathway significantly contributes to the disease.
Article Synopsis
- * An 8-year-old boy with this disorder had a specific genetic mutation in the CD79A gene and developed difficult-to-treat leg ulcers caused by Helicobacter bilis, despite regular treatments like intravenous immunoglobulin and antibiotics.
- * The case highlights the necessity of accurate genetic diagnosis and specialized antimicrobial treatments when dealing with infections in patients with primary immunodeficiencies, especially those linked to CD79A mutations.
Article Synopsis
- Common Variable Immune Deficiency (CVID) is the most common primary immune deficiency in adults and is linked to higher rates of Non-Hodgkin Lymphomas (NHLs).
- The review discusses changes in immune cells, genetic factors, and tissue pathology specifically related to NHLs in CVID patients.
- Immune defects in CVID, such as reduced T cell types and alterations in B cells, along with genetic markers and signaling pathways, may contribute to increased lymphoma risk and require further research to identify potential prognostic indicators.
Idiopathic nephrotic syndrome (NS) is a common glomerular disease in children throughout the world; however, the exact pathogenesis of the disease remains unknown. Several studies have shown that tumour necrosis factor-alpha (TNF-α), a proinflammatory cytokine, plays a significant role in the pathogenesis of NS. The literature lacks sufficient data to establish the relationship between TNF-α and NS.
View Article and Find Full Text PDFIntroduction: 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.
View Article and Find Full Text PDFProteomics approach for biomarker discovery in Kawasaki disease.
Expert Rev Clin Immunol
December 2024
Introduction: Kawasaki disease (KD) is a medium vessel vasculitis mainly affecting children below the age of 5. KD is the leading cause of acquired heart disease in developed countries. Diagnosis of KD is clinical, and there are no pathognomonic laboratory tests to confirm the diagnosis.
View Article and Find Full Text PDFBackground: Biomarkers to predict the onset and progression of chronic kidney disease (CKD) in children are lacking, and no such definite biomarkers have been implicated in the diagnosis of CKD. We conducted this study to evaluate copeptin as a CKD marker and predict the disease progression by estimating the copeptin levels at baseline and 12 months follow-up in children with CKD stage 2 and above.
Materials And Methods: This prospective single-centre cohort study was conducted in children under 14 years with CKD stages 2-4.
Background: Post-tuberculosis lung abnormality (PTLA) is the most common risk factor for chronic pulmonary aspergillosis (CPA), and 14%-25% of the subjects with PTLA develop CPA. The pathogenesis and the host immune response in subjects with PTLA who develop CPA need to be better understood.
Methods: We prospectively compared the innate and adaptive immune responses mounted by patients of PTLA with or without CPA (controls).