ArticleImmunologic research2024
Ataxia-telangiectasia in Latin America: clinical features, immunodeficiency, and mortality in a multicenter study.
Article in Immunologic research, 2024. 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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Who cites it
4 citing papers in PubMed.
- A rare ATM variant in a Colombian family with chorea-ataxia syndrome: implications for an early diagnosis.Neurogenetics · 2026Article
- Nutritional status and metabolic alterations in patients with ataxia-telangiectasia.Orphanet journal of rare diseases · 2025Article
- Generalized Telangiectasia as a Hallmark of Intravascular Lymphoma: A Case Report and Literature Review.Healthcare (Basel, Switzerland) · 2024Article
- Novel pathogenic ATM mutation with ataxia-telangiectasia in a Chinese family.Frontiers in genetics · 2024Article
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69 authors.
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Abstract
Ataxia-telangiectasia (AT) is a rare genetic disorder leading to neurological defects, telangiectasias, and immunodeficiency. We aimed to study the clinical and immunological features of Latin American patients with AT and analyze factors associated with mortality. Referral centers from 9 Latin American countries participated in this retrospective cohort study, and 218 patients were included. Median (IQR) ages at symptom onset and diagnosis were 1.0 (1.0-2.0) and 5.0 (3.0-8.0) years, respectively. Most patients presented recurrent airway infections, which was significantly associated with IgA deficiency. IgA deficiency was observed in 60.8% of patients and IgG deficiency in 28.6%. T- and B-lymphopenias were also present in most cases. Mean survival was 24.2 years, and Kaplan-Meier 20-year-survival rate was 52.6%, with higher mortality associated with female gender and low IgG levels. These findings suggest that immunologic status should be investigated in all patients with AT.
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