Peer-reviewedCC BY-NCEuropean journal of neurology
A Large Multicenter Cohort of Ataxia-Telangiectasia: Clinical, Immunologic, Genetic, and Survival Outcomes.
29 affiliations
- 1Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
- 2Primary Immunodeficiency Diseases Network (PIDNet), Universal Scientific Education and Research Network (USERN), Tehran, Iran.
- 3Department of Allergy and Clinical Immunology, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
- 4Allergy Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
- 5Department of Allergy and Clinical Immunology, Namazi Hospital, Shiraz University of Medical Sciences, Shiraz, Iran.
- 6Department of Biology (Molecular and Cellular Biology), Islamic Azad University of Mashhad, Mashhad, Iran.
- 7Department of Immunology and Allergy, Tabriz University of Medical Sciences, Tabriz, Iran.
- 8Pediatric Respiratory and Sleep Medicine Research Center, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
- 9Department of Pediatrics, School of Medicine, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
- 10Department of Pediatrics, Abuzar Children's Hospital, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
- 11Department of Immunology, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
- 12Clinical Research Development Unit of Akbar Hospital, Mashhad University of Medical Sciences, Mashhad, Iran.
- 13Imam Khomeini Hospital Complex, Tehran University of Medical Sciences, Tehran, Iran.
- 14Children Growth Disorder Research Center, Shahid Sadoughi Hospital, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
- 15Department of Allergy and Clinical Immunology, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
- 16Department of Allergy and Clinical Immunology, Child Growth and Development Research Center, Research Institute for Primordial Prevention of Non-Communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran.
- 17Immunodeficiecy Diseases Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.
- 18Non-Communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran.
- 19Department of Rheumatology, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
- 20Department of Immunology, Bahrami Hospital, Tehran University of Medical Sciences, Tehran, Iran.
- 21Department of Pediatrics, 17th Shahrivar Children's Hospital, Guilan University of Medical Sciences, Rasht, Iran.
- 22Immunology and Allergy Department, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
- 23Pediatrics Infectious Diseases, Rheumatology and Immunology Unit, Institute of Biomedicine of Seville, University Hospital Vírgen del Rocío/CSIC/University of Seville, Seville, Spain.
- 24Department of Pharmacology, Pediatrics and Radiology, University of Seville, Seville, Spain.
- 25Inborn Errors of Immunity, Department of Microbiology, Immunology and Transplantation, KU Leuven, Leuven, Belgium.
- 26Pediatric Immunodeficiency, Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium.
- 27Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.
- 28Paediatric Stem Cell Transplant Unit, Great North Children's Hospital, Newcastle upon Tyne, UK.
- 29Clinic for Pediatric Immunology and Rheumatology, Center for Pediatrics and Adolescent Medicine, University Hospital Bonn, Bonn, Germany.
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.
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BibTeX
@article{fekrvand2026large,
title = {{A Large Multicenter Cohort of Ataxia-Telangiectasia: Clinical, Immunologic, Genetic, and Survival Outcomes.}},
author = {Saba Fekrvand and Ayda Firouzabadi and Pouya Vakilipour and Dorsa Safari and Samaneh Delavari and Ali Zarezadeh Mehrabadi and Zahra Chavoshzadeh and Hossein Esmaeilzadeh and Samin Sharafian and Farahnaz DorriMoghaddam and Mahnaz Sadeghi-Shabestari and Fatemeh Tarighat Monfared and Ehsan Khoshnezhad Afkham and Soheila Aleyasin and Farhad Abolnezhadian and Reza Salyanchi and Hamid Ahanchian and Arash Kalantari and Nasrin Behniafard and Tooba Momen and Roya Sherkat and Marzieh Tavakol and Sahar Barzamini and Alireza Shafiei and Taher Cheraghi and Ahmad Vosughimotlagh and Najmeh Sepahi and Peter Olbrich and Isabelle Meyts and Andrew R Gennery and Hassan Abolhassani and Nima Rezaei and Reza Yazdani},
journal = {European journal of neurology},
year = {2026},
month = nov,
doi = {10.1111/ene.70810},
url = {https://europepmc.org/article/MED/42969471},
note = {CC BY-NC},
}
RIS
TY - JOUR
TI - A Large Multicenter Cohort of Ataxia-Telangiectasia: Clinical, Immunologic, Genetic, and Survival Outcomes.
AU - Saba Fekrvand
AU - Ayda Firouzabadi
AU - Pouya Vakilipour
AU - Dorsa Safari
AU - Samaneh Delavari
AU - Ali Zarezadeh Mehrabadi
AU - Zahra Chavoshzadeh
AU - Hossein Esmaeilzadeh
AU - Samin Sharafian
AU - Farahnaz DorriMoghaddam
AU - Mahnaz Sadeghi-Shabestari
AU - Fatemeh Tarighat Monfared
AU - Ehsan Khoshnezhad Afkham
AU - Soheila Aleyasin
AU - Farhad Abolnezhadian
AU - Reza Salyanchi
AU - Hamid Ahanchian
AU - Arash Kalantari
AU - Nasrin Behniafard
AU - Tooba Momen
AU - Roya Sherkat
AU - Marzieh Tavakol
AU - Sahar Barzamini
AU - Alireza Shafiei
AU - Taher Cheraghi
AU - Ahmad Vosughimotlagh
AU - Najmeh Sepahi
AU - Peter Olbrich
AU - Isabelle Meyts
AU - Andrew R Gennery
AU - Hassan Abolhassani
AU - Nima Rezaei
AU - Reza Yazdani
PY - 2026
DA - 2026/11/01
JO - European journal of neurology
DO - 10.1111/ene.70810
UR - https://europepmc.org/article/MED/42969471
AB - 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.
SN - 1351-5101
SN - 1468-1331
ER -