A5057267024- Immunodeficiency and Autoimmune Disorders
- Blood disorders and treatments
- Immune Cell Function and Interaction
- Parvovirus B19 Infection Studies
- Autoimmune and Inflammatory Disorders Research
- Inflammasome and immune disorders
- T-cell and B-cell Immunology
- Cytomegalovirus and herpesvirus research
- Chronic Lymphocytic Leukemia Research
- Kawasaki Disease and Coronary Complications
- Fungal Infections and Studies
- Cell death mechanisms and regulation
- Blood groups and transfusion
- Immune responses and vaccinations
- Tuberculosis Research and Epidemiology
- Cell Adhesion Molecules Research
- Antifungal resistance and susceptibility
- Erythrocyte Function and Pathophysiology
- Mycobacterium research and diagnosis
- COVID-19 epidemiological studies
- Infectious Diseases and Mycology
- COVID-19 Clinical Research Studies
- Congenital Diaphragmatic Hernia Studies
- Congenital Ear and Nasal Anomalies
- Acute Myeloid Leukemia Research
National Institute of Immunohaematology
2018-2025
Indian Council of Medical Research
2020-2024
All India Institute of Medical Sciences Bhopal
2024
Bai Jerbai Wadia Hospital for Children
2022
Mendelian Susceptibility to Mycobacterial diseases (MSMD) are a group of innate immune defects with more than 17 genes and 32 clinical phenotypes identified. Defects in the IFN-γ mediated immunity lead an increased susceptibility intracellular pathogens like mycobacteria including attenuated Mycobacterium bovis -Bacillus Calmette-Guérin (BCG) vaccine strains non-tuberculous environmental (NTM), Salmonella , fungi, parasites Leishmania some viruses, otherwise healthy individuals. Mutations...
Severe combined immunodeficiency (SCID) represents one of the most severe forms primary (PID) disorders characterized by impaired cellular and humoral immune responses. Here, we report clinical, immunological, molecular findings in 57 patients diagnosed with SCID from India. Majority our (89%) presented within 6 months age. The common clinical manifestations observed were recurrent pneumonia (66%), failure to thrive (60%), chronic diarrhea (35%), gastrointestinal infection (21%) oral...
Chronic granulomatous disease (CGD) is an inherited defect in phagocytic respiratory burst that results severe and life-threatening infections affected children. Single center studies from India have shown proportion of autosomal recessive (AR) CGD more than reported the West. Further, patients high mortality rates due to late referrals difficulties accessing appropriate treatment. However, there lack multicentric collaborative data on India.To describe infection patterns, immunological,...
<title>Abstract</title> Wiskott-Aldrich Syndrome (WAS) is a rare X-linked recessive disorder characterized by microthrombocytopenia, eczema, combined immunodeficiency, and an increased risk of malignancies. Previous research has highlighted genomic instability in WAS patients; however, the specific dynamics double-strand break (DSB) repair these individuals are not fully understood. Phosphorylation γH2AX serves as early indicator DSBs, while 53BP1 binds to damaged chromatin γH2AX-dependent...
Leukocyte adhesion deficiency (LAD) syndrome is a group of inborn errors immunity characterized by defect in the cascade activation and leading to failure leukocyte migrate site tissue injury. Three different types LAD have been described. The most common subtype type 1 (LAD1) caused due defects ITGβ2 gene. 2 (LAD2) mutations SLC35C1 gene generalized loss expression fucosylated glycans on cell surface 3 (LAD3) FERMT3 resulting platelet function along with immunodeficiency. There paucity data...
Hemophagocytic lymphohistiocytosis (HLH) is a syndrome of immune dysregulation characterized by hyperactivation the system, excessive cytokine secretion and severe systemic inflammation. HLH classified as familial (FHL) when associated with mutations in PRF1, UNC13D, STX11 , STXBP2 genes. There limited information available about clinical mutational spectrum FHL patients Indian population. This study retrospective analysis 101 molecularly over last 10 years from 20 different referral centers...
DOCK8 deficiency affects various cell subsets belonging to both the innate and adaptive immune systems. Clinical diagnosis is challenging, as many cases present with severe atopic dermatitis only initial manifestation. Though flow cytometry helps in presumptive of DOCK8-deficient patients by evaluating their protein expression, it requires subsequent confirmation molecular genetic analysis. Currently, haematopoietic stem transplantation (HSCT) curative treatment option available for these...
Nicotinamide adenine dinucleotide phosphate (NADPH)-oxidase, enzyme complex responsible for Reactive oxygen species (ROS) production is defective in chronic granulomatous disease (CGD) patients. This helps antimicrobial host defence by phagocytes. CGD patients have inability to form Neutrophil extracellular traps (NETs), which are composed of granule derived proteins from neutrophils decorated with decondensed chromatin. Mitochondria has gained attention, being a rich source flavochrome...
Abstract World Health Organisation recommends the practice of BCG vaccination at birth in countries which have a high incidence tuberculosis and/or leprosy burden. The is considered safe for competent immune system. However, children with weakened systems cause can be primary or secondary, vaccine may lead to side effects localized disseminated. In this study, we report spectrum inborn errors immunity (IEI) commonly referred as immunodeficiency disorders (PIDs) diagnosed large cohort...
Accurate diagnosis of immunodeficiencies requires a critical comparison values with age-matched controls. In India, the existing reference for rare lymphocyte subsets are currently not available and we rely on data originating from other countries interpretation results. Furthermore, there is limited information normal variation these rare-subset parameters in Indian children. So, this study aimed to establish normative clinically important children at different age groups.148 aged ≥16 yr...
Objectives LPS-responsive beige-like anchor protein (LRBA) deficiency abolishes LRBA expression due to biallelic mutations in the gene that lead autoimmune manifestations, inflammatory bowel disease, hypogammaglobulinemia early stages, and variable clinical manifestations.Materials methods Mutational analysis of was performed Indian patients using targeted Next Generation Sequencing (t-NGS) confirmed by Sanger sequencing specific primers exons 53. Then, bioinformatics modeling for novel...
The emergence of vaccine-derived polioviruses (VDPVs) in patients with Primary Immunodeficiency (PID) is a threat to the polio-eradication program. In first its kind pilot study for successful screening and identification VDPV excretion among PID India, enteroviruses were assessed stool specimens 154 across India period two years. A total 21.42% tested positive enteroviruses, 2.59% (PV), whereas 18.83% non-polio (NPEV). male child 3 years 6 months age diagnosed Hyper IgM syndrome was...
Fanconi anemia (FA) is a rare inherited syndrome characterized by progressive bone marrow failure (BMF), abnormal skin pigmentation, short stature and increased cancer risk. BMF in FA multifactorial largely results from death of hematopoietic stem cells due to genomic instability. Also, inflammatory pathology has been previously reported, however the mechanism still not clear. In literature, decreased NK-cell count and/or impaired activity along with other immunological abnormalities...