Iranian Cohort Describes Clinical Features and Survival in Ataxia-Telangiectasia

Researchers conducted a retrospective cohort study of 305 patients with ataxia-telangiectasia (AT) registered through an Iranian national referral network between 2002 and 2025. Diagnoses were based on European Society for Immunodeficiencies criteria. The study assessed demographic, clinical, immunologic and genetic characteristics, as well as survival outcomes.

Mean age at symptom onset was 25.2 months, and mean age at diagnosis was 72.0 months. Non-neurological features were the first presentation in 43.9% of patients. Pneumonia accounted for 13% of initial manifestations and was the most frequent infectious complication (30.2%). Immunoglobulin abnormalities were reported in 84.7%; class-switch recombination defects occurred in 45.6% and were associated with greater clinical morbidity. Among patients who underwent genetic evaluation, 83.8% had variants classified as severe under predicted loss-of-function criteria. Estimated overall survival was 81.6% at five years and 60.2% at 10 years. Median age at death was 12.8 years; malignancy and respiratory tract infections were the most common reported causes.

The findings characterize a large national cohort and highlight the range of presentations and immune abnormalities in AT. The retrospective referral-network design may limit generalizability beyond this population; the report does not establish that any specific diagnostic or management approach improves outcomes.