ArticleScientific reports2022
Unusual clinical manifestations and predominant stopgain ATM gene variants in a single centre cohort of ataxia telangiectasia from 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 4 papers.
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4 citing papers in PubMed, 2 citations in OpenAlex.
- Genetic association of immunosenescence to immune decline.Immunogenetics · 2026Review
- Evaluation of T-cell repertoire by flow cytometric analysis in primary immunodeficiencies with DNA repair defects.Scandinavian journal of immunology · 2025Article
- Genetic and Epidemiological Aspects of Louis-Bar Syndrome Transmission: The Impact of Consanguineous Marriages on the Incidence of Hereditary Disorders.Journal of mother and child · 2025Article
- Infections in DNA Repair Defects.Pathogens (Basel, Switzerland) · 2023Review
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Authors and funding
18 authors at 2 institutions in 2 countries.
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Abstract
Germline ATM gene variations result in phenotypic heterogeneity characterized by a variable degree of disease severity. We retrospectively collected clinical, genetic, and immunological data of 26 cases with A-T. Clinical manifestations included oculocutaneous telangiectasia (100%), ataxia (100%), fever, loose stools or infection (67%), cerebellar atrophy (50%), nystagmus (8%), dysarthria (15.38%), and visual impairment (8%). Genetic analysis confirmed ATM gene variations in 16 unrelated cases. The most common type of variation was stopgain variants (56%). Immunoglobulin profile indicated reduced IgA, IgG, and IgM in 94%, 50%, and 20% cases, respectively. T cell lymphopenia was observed in 80% of cases among those investigated. Unusual presentations included an EBV-associated smooth muscle tumour located in the liver in one case and Hyper IgM syndrome-like presentation in two cases. Increased immunosenescence was observed in T-cell subsets (CD4+CD57+ and CD8+CD57+). T-cell receptor excision circles (TRECs) were reduced in 3/8 (37.50%) cases.
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