A Large Multicenter Cohort of Ataxia-Telangiectasia: Clinical, Immunologic, Genetic, and Survival Outcomes
In brief
Iranian ataxia-telangiectasia cohort had 60% estimated 10-year survival
In this retrospective national cohort of 305 patients, estimated survival was 81.6% at 5 years and 60.2% at 10 years. Nearly 44% first presented with symptoms outside the nervous system, and immune abnormalities were common; malignancy and respiratory infections were the leading causes of death. The findings underscore the need to recognize varied presentations, but reflect one country's referral network.
- Journal
- European journal of neurology (Q1)
- Published
- 1 November 2026
- Study design
- Retrospective cohort
- Evidence level
- Level 3, Low (CEBM 3b)
- Authors
- Saba Fekrvand, Ayda Firouzabadi, Pouya Vakilipour, Dorsa Safari, Samaneh Delavari, Ali Zarezadeh Mehrabadi, et al.
- PMID
- 42969471
- DOI
- 10.1111/ene.70810
Why clinicians should know about it
- Picked for Immunology and Allergy (paper of the day, 3 November 2026): Large cohort characterizes clinical outcomes in primary immunodeficiency
Abstract
BACKGROUND: Ataxia telangiectasia (AT) is a life-threatening multisystem disorder characterized mainly by neurologic manifestations, infections, and malignancy. We aimed to present a comprehensive analysis of demographic, clinical, immunologic, and genetic features and outcomes of patients with AT in Iran. METHODS: We conducted a retrospective cohort study of 305 registered patients with AT enrolled through a national referral network (2002-2025). Diagnosis was established according to the European Society for Immunodeficiencies criteria. RESULTS: Mean age at diagnosis and mean age at onset were 72.0 (±46.0) and 25.2 (±35.57) months, respectively. A substantial proportion of patients presented with non-neurological manifestations as their first clinical feature (43.9%). Among non-neurological manifestations, pneumonia was the second most common initial manifestation (13%) and the most frequent infectious complication (30.2%). Variants classified as severe under the predicted loss-of-function (PVS1) criteria were identified in 104 patients, representing 83.8% of those who underwent genetic evaluation. Immunoglobulin abnormalities were detected in 84.7% of patients. A notable proportion of patients showed class switching recombination defects (45.6%), which were associated with a higher burden of clinical morbidity. Median age at death was 12.8 years (95% CI, 11.0-15.0), and the estimated overall survival rates at 5 and 10 years were 81.6% and 60.2%, respectively. Malignancy (28.9%) and respiratory tract infections (20.0%) were the most common causes of death, respectively. CONCLUSION: This large national cohort provides a comprehensive characterization of the clinical, immunologic, and genetic landscape of AT and its determinants of outcome, thereby improving diagnostic recognition, risk stratification, and patient management.
Abstract as published, via PubMed.
For healthcare professionals. The summary is generated by AI from the published abstract, and the evidence level is assigned automatically from the study design on the Oxford CEBM hierarchy. Neither is medical advice. Read the full paper before changing practice.