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DOI 10.1007/s12026-024-09494-5

Медицинская библиотека · Immunologic research · 2024

Ataxia-telangiectasia in Latin America: clinical features, immunodeficiency, and mortality in a multicenter study.

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

СтатьяМногоцентровое исследованиеПеревод в очереди

Аннотация

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.

Для цитирования: Pereira Renan A, Dantas Ellen O, Loekmanwidjaja Jessica, Mazzucchelli Juliana T L, Aranda Carolina S, Serrano Maria E G, De La Cruz Córdoba Elisabeth A, Bezrodnik Liliana, Moreira Ileana, Ferreira Janaira F S, Dantas Vera M, Sales Valéria S F, Fernandez Carmen C, Vilela Maria M S, Motta Isabela P, Franco Jose Luis, Arango Julio Cesar Orrego, Álvarez-Álvarez Jesús A, Cardozo Lina Rocío Riaño, Orellana Julio C, Condino-Neto Antonio, Kokron Cristina M, Barros Myrthes T, Regairaz Lorena, Cabanillas Diana, Suarez Carmen L N, Rosario Nelson A, Chong-Neto Herberto J, Takano Olga A, Nadaf Maria I S V, Moraes Lillian S L, Tavares Fabiola S, Rabelo Flaviane, Pino Jessica, Calderon Wilmer C, Mendoza-Quispe Daniel, Goudouris Ekaterini S, Patiño Virginia, Montenegro Cecilia, Souza Monica S, Branco Aniela BXCCastelo, Forte Wilma C N, Carvalho Flavia A A, Segundo Gesmar, Cheik Marina F A, Roxo-Junior Persio, Peres Maryanna, Oliveira Annie M, Neto Arnaldo C P, Ortega-López Maria Claudia, Lozano Alejandro, Lozano Natalia Andrea, Nieto Leticia H, Grumach Anete S, Costa Daniele C, Antunes Nelma M N, Nudelman Victor, Pereira Camila T M, Martinez Maria D M, Quiroz Francisco J R, Cardona Aristoteles A, Nuñez-Nuñez Maria E, Rodriguez Jairo A, Cuellar Célia M, Vijoditz Gustavo, Bichuetti-Silva Daniélli C, Prando Carolina C M, Amantéa Sérgio L, Costa-Carvalho Beatriz T. Ataxia-telangiectasia in Latin America: clinical features, immunodeficiency, and mortality in a multicenter study.. Immunologic research. 2024. DOI: 10.1007/s12026-024-09494-5.

Предметные рубрики MeSH

HumansFemaleMaleLatin AmericaAtaxia TelangiectasiaRetrospective StudiesChildChild, PreschoolAdultAdolescentInfantImmunologic Deficiency SyndromesYoung Adult
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