Publications by authors named "Deepti Suri"
Skeletal dysplasias are a clinically and genetically heterogeneous group of rare disorders. Studies from large cohorts are essential to provide insights into the disease epidemiology, phenotypic spectrum, and mutational profiles. Here we enumerate additional 248 Indians from 197 families with a skeletal dysplasia, following a similar study earlier.
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
- 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.
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- 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.
The value of CT coronary angiography for a comprehensive assessment of left circumflex artery in Kawasaki disease: 9 years of experience from a tertiary center.
Lancet Reg Health Southeast Asia
October 2024
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.
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.
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.
View Article and Find Full Text PDFKimura'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.
View Article and Find Full Text PDFGrowth and Puberty Attainment of Girls with Human Immunodeficiency Virus.
Indian J Public Health
October 2023
Pattern of physical growth and pubertal changes among 59 girls, aged 8-15 years, diagnosed as cases of HIV on anti-retroviral therapy was cross-sectionally studied. Besides, measurement of body weight, height, and body mass index, breast development stage, presence or absence of pubic and axillary hair, and age of attainment of menarche were also noted in these subjects in the growth clinic of the department. With the advancement of age, the weight and height of HIV girls increased; however, they were lighter and shorter compared to their normal peers.
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- Mixed connective tissue disease (MCTD) is rare in children, and there's limited research on juvenile-onset MCTD (jMCTD), particularly in Southeast Asia.
- A study involving eleven pediatric rheumatology centers in India analyzed clinical and laboratory data from 31 jMCTD patients, revealing common symptoms like arthritis, malar rash, and Raynaud's phenomenon.
- The findings highlight the need for better understanding and management of jMCTD in children, with 45% of patients in remission after an average follow-up of 43 months.
Primary immune regulatory disorders (PIRDs) constitute a spectrum of inborn errors of immunity (IEIs) that are primarily characterized by autoimmunity, lymphoproliferation, atopy, and malignancy. In PIRDs, infections are infrequent compared to other IEIs. While susceptibility to infection primarily stems from antibody deficiency, it is sometimes associated with additional innate immune and T or NK cell defects.
View Article and Find Full Text PDFIntroduction: Wiskott-Aldrich syndrome (WAS) is a rare X-linked inborn error of immunity characterized by microthrombocytopenia, infections, eczema, and increased predisposition to develop autoimmunity and malignancy. Flow cytometric assay for determining WAS protein (WASp) is a rapid and cost-effective tool for detecting patients. However, very few studies described WASp expression in female carriers.
View Article and Find Full Text PDFImmunoglobulins (Ig) were used as a therapeutic modality for the first time in a patient with X-linked agammaglobulinemia in 1952 by Colonel Ogden Bruton, decades before the molecular mechanisms causing the disease were unraveled. In many autoimmune and inflammatory illnesses, human immunoglobulin has been employed as a significant immunomodulatory and immunosuppressive drug. In patients with inborn errors of immunity (IEI), immunoglobulin remains a cornerstone of management.
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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.
Background: Hereditary angio-oedema (HAE) is a rare autosomal dominant disorder characterized clinically by recurrent episodes of nonpruritic subcutaneous and/or submucosal oedema. Laryngeal oedema is the commonest cause of mortality in patients with HAE. Prior to the availability of first-line treatment options for the management of HAE, mortality was as high as 30%.
View Article and Find Full Text PDFBackground: Dedicator of cytokinesis protein 8 (DOCK8) deficiency is an autosomal recessive form of combined immunodeficiency. This rare disorder is characterized by an increased predisposition to allergy, autoimmunity and malignancies.
Objectives: To analyse clinical, immunological and molecular profiles of patients with DOCK8 deficiency.
Introduction: gene single-nucleotide polymorphisms (SNPs) have been associated with susceptibility and development of coronary artery abnormalities (CAAs) in children with Kawasaki disease (KD) in Japanese, Chinese, and Taiwanese populations. However, data on SNPs of the gene in patients with KD from the Indian subcontinent are not available. We studied the gene polymorphisms and its expression in children with KD from North India.
View Article and Find Full Text PDFChronic 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.
View Article and Find Full Text PDFVarious factors (e.g., infections) have been postulated to trigger Kawasaki disease (KD) in genetically predisposed individuals.
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