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
{"title":"拉丁美洲共济失调-特朗吉克斯综合征：一项多中心研究的临床特征、免疫缺陷和死亡率。","authors":"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","doi":"10.1007/s12026-024-09494-5","DOIUrl":null,"url":null,"abstract":"<p><p>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% of patients and IgG deficiency in 28.6%. T- and B-lymphopenias were also present in most cases. Mean survival was 24.2 years, and Kaplan-Meier 20-year-survival rate was 52.6%, with higher mortality associated with female gender and low IgG levels. These findings suggest that immunologic status should be investigated in all patients with AT.</p>","PeriodicalId":3,"journal":{"name":"ACS Applied Electronic Materials","volume":null,"pages":null},"PeriodicalIF":4.3000,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Ataxia-telangiectasia in Latin America: clinical features, immunodeficiency, and mortality in a multicenter study.\",\"authors\":\"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\",\"doi\":\"10.1007/s12026-024-09494-5\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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% of patients and IgG deficiency in 28.6%. T- and B-lymphopenias were also present in most cases. Mean survival was 24.2 years, and Kaplan-Meier 20-year-survival rate was 52.6%, with higher mortality associated with female gender and low IgG levels. These findings suggest that immunologic status should be investigated in all patients with AT.</p>\",\"PeriodicalId\":3,\"journal\":{\"name\":\"ACS Applied Electronic Materials\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":4.3000,\"publicationDate\":\"2024-08-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"ACS Applied Electronic Materials\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1007/s12026-024-09494-5\",\"RegionNum\":3,\"RegionCategory\":\"材料科学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/6/4 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q1\",\"JCRName\":\"ENGINEERING, ELECTRICAL & ELECTRONIC\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"ACS Applied Electronic Materials","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s12026-024-09494-5","RegionNum":3,"RegionCategory":"材料科学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/6/4 0:00:00","PubModel":"Epub","JCR":"Q1","JCRName":"ENGINEERING, ELECTRICAL & ELECTRONIC","Score":null,"Total":0}
Ataxia-telangiectasia in Latin America: clinical features, immunodeficiency, and mortality in a multicenter study.
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% of patients and IgG deficiency in 28.6%. T- and B-lymphopenias were also present in most cases. Mean survival was 24.2 years, and Kaplan-Meier 20-year-survival rate was 52.6%, with higher mortality associated with female gender and low IgG levels. These findings suggest that immunologic status should be investigated in all patients with AT.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
