In a national cohort of 305 Iranian patients with ataxia-telangiectasia, diagnosis was delayed, nearly half presented first with non-neurological features, immunoglobulin abnormalities were common, and median age at death was 12.8 years, with malignancy and respiratory infections as the leading causes of death.
Diagnosis of AT was substantially delayed relative to symptom onset in the Iranian national cohort.
A large share of patients presented first with non-neurological manifestations, with pneumonia the most common among them after neurological signs.
Most patients who underwent genetic testing carried severe, predicted loss-of-function variants.
Immunoglobulin abnormalities were very common, and class switching recombination defects were frequent and linked to greater clinical morbidity.
Survival in AT was poor, with a median age at death of 12.8 years.
Malignancy and respiratory tract infections were the leading causes of death.
This study looked at 305 people with ataxia-telangiectasia (AT), a rare, life-threatening genetic disorder that affects the nervous system and immune system and raises cancer risk. The patients were registered in Iran between 2002 and 2025. On average, symptoms began around age 2, but diagnosis came at about age 6, suggesting a long delay before the condition was recognized. Nearly 44% of patients first showed signs unrelated to the nervous system, such as lung infections like pneumonia, which means AT may be missed if doctors look only for movement problems. Most patients who had genetic testing carried severe gene variants. Abnormal antibody levels were found in about 85% of patients, and a defect in how immune cells switch antibody types was seen in about 46% and was linked to more illness. Survival was limited: median age at death was about 12.8 years, and about 60% of patients were alive at 10 years. Cancer and respiratory infections were the most common causes of death. This research suggests that earlier recognition of AT, including in children presenting with repeated infections, and attention to immune and cancer risks could help in monitoring and managing patients.
Fekrvand S, Firouzabadi A, Vakilipour P, Safari D, Delavari S, Mehrabadi A, et al.. (2026). A Large Multicenter Cohort of Ataxia-Telangiectasia: Clinical, Immunologic, Genetic, and Survival Outcomes.. European journal of neurology. https://doi.org/10.1111/ene.70810