ArticleScientific reports2022
Utility of targeted next generation sequencing for inborn errors of immunity at a tertiary care centre in North India.
Article in Scientific reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 2 of them syntheses that pooled it.
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Who cites it
10 citing papers in PubMed, 2 syntheses or guidelines pooled it, 16 citations in OpenAlex.
- Diagnostic yield of next-generation sequencing in suspect primary immunodeficiencies diseases: a systematic review and meta-analysis.Clinical and experimental medicine · 2024Pooled it
- Clinical and Immunological Features, Genetic Variants, and Outcomes of Patients with CD40 Deficiency.Journal of clinical immunology · 2023Pooled it
- Inborn Errors of Immunity Genotype: A Retrospective Study from the United Arab Emirates.Journal of clinical immunology · 2026Article
- Unclassified Inborn Errors of Immunity Patients without any Pathogenic Variant in Targeted Next-Generation Sequencing: Long-Term Follow-up and Whole Exome Sequencing Results.Journal of clinical immunology · 2026Article
- Differences in immunoglobulin utilization when treating patients with primary immune disease in the United States.The journal of allergy and clinical immunology. Global · 2026Article
- Accelerating primer design for amplicon sequencing using large language model-powered agents.Nature biomedical engineering · 2026Article
- Recent Insights on Dental Caries Microbiota in Pediatric Patients with Inborn Errors of Immunity.Advances in experimental medicine and biology · 2026Review
- Clinicopathological and Immunogenetic Characterization in 8 Patients with Familial Hemophagocytic Lymphohistiocytosis Type 2: A Study from North India with Literature Review.Journal of clinical immunology · 2025Review
- Microbiome and Its Dysbiosis in Inborn Errors of Immunity.Pathogens (Basel, Switzerland) · 2023Review
- Genetic diagnosis of inborn errors of immunity using clinical exome sequencing.Frontiers in immunology · 2023Article
Corrections and comments
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Authors and funding
15 authors at 4 institutions in 4 countries.
Funding
Abstract
Inborn errors of immunity (IEI) are a heterogeneous group of monogenic disorders that include primary immunodeficiency's and other disorders affecting different aspects of the immune system. Next-Generation Sequencing (NGS) is an essential tool to diagnose IEI. We report our 3-year experience in setting up facilities for NGS for diagnosis of IEI in Chandigarh, North India. We used a targeted, customized gene panel of 44 genes known to result in IEI. Variant analysis was done using Ion Reporter software. The in-house NGS has enabled us to offer genetic diagnoses to patients with IEI at minimal costs. Of 121 patients who were included pathogenic variants were identified in 77 patients. These included patients with Chronic Granulomatous Disease, Severe Combined Immune Deficiency, leukocyte adhesion defect, X-linked agammaglobulinemia, Ataxia Telangiectasia, Hyper-IgE syndrome, Wiskott Aldrich syndrome, Mendelian susceptibility to mycobacterial diseases, Hyper-IgM syndrome, autoimmune lymphoproliferative syndrome, and GATA-2 deficiency. This manuscript discusses the challenges encountered while setting up and running targeted NGS for IEI in our unit. Genetic diagnosis has helped our patients with IEI in genetic counselling, prenatal diagnosis, and accessing appropriate therapeutic options.
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