Ataxia-telangiectasia in Latin America: clinical features, immunodeficiency, and mortality in a multicenter study
Renan A. Pereira,Ellen O. Dantas,Jessica Loekmanwidjaja,Juliana T. L. Mazzucchelli,Carolina S. Aranda,Maria E. G. Serrano,Elisabeth A. De La Cruz Córdoba,Liliana Bezrodnik,Ileana Moreira,Janaira F. S. Ferreira,Vera M. Dantas,Valéria S. F. Sales,Carmen C. Fernandez,Maria M. S. Vilela,Isabela P. Motta,Jose Luis Franco,Julio Cesar Orrego Arango,Jesús A. Álvarez-Álvarez,Lina Rocío Riaño Cardozo,Julio C. Orellana,Antonio Condino-Neto,Cristina M. Kokron,Myrthes T. Barros,Lorena Regairaz,Diana Cabanillas,Carmen L. N. Suarez,Nelson A. Rosario,Herberto J. Chong-Neto,Olga A. Takano,Maria I. S. V. Nadaf,Lillian S. L. Moraes,Fabiola S. Tavares,Flaviane Rabelo,Jessica Pino,Wilmer C. Calderon,Daniel Mendoza-Quispe,Ekaterini S. Goudouris,Virginia Patiño,Cecilia Montenegro,Monica S. Souza,Aniela BXCCastelo Branco,Wilma C. N. Forte,Flavia A. A. Carvalho,Gesmar Segundo,Marina F. A. Cheik,Persio Roxo-Junior,Maryanna Peres,Annie M. Oliveira,Arnaldo C. P. Neto,Maria Claudia Ortega-López,Alejandro Lozano,Natalia Andrea Lozano,Leticia H. Nieto,Anete S. Grumach,Daniele C. Costa,Nelma M. N. Antunes,Victor Nudelman,Camila T. M. Pereira,Maria D. M. Martinez,Francisco J. R. Quiroz,Aristoteles A. Cardona,Maria E. Nuñez-Nuñez,Jairo A. Rodriguez,Célia M. Cuellar,Gustavo Vijoditz,Daniélli C. Bichuetti-Silva,Carolina C. M. Prando,Sérgio L. Amantéa,Beatriz T. Costa-Carvalho
Immunologic Research（2024）
引用0|浏览5
暂无评分
摘要
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
更多
查看译文
关键词
Ataxia telangiectasia,Primary immunodeficiency diseases,Immunologic deficiency syndromes,Survey,Latin America
