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Multicenter Study
. 2024 Aug;72(4):864-873.
doi: 10.1007/s12026-024-09494-5. Epub 2024 Jun 4.

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

Renan A Pereira  1 , Ellen O Dantas  2 , Jessica Loekmanwidjaja  3 , Juliana T L Mazzucchelli  3 , Carolina S Aranda  3 , Maria E G Serrano  4 , Elisabeth A De La Cruz Córdoba  4 , Liliana Bezrodnik  5 , Ileana Moreira  5 , Janaira F S Ferreira  6 , Vera M Dantas  7 , Valéria S F Sales  7 , Carmen C Fernandez  8 , Maria M S Vilela  9 , Isabela P Motta  9 , Jose Luis Franco  10 , Julio Cesar Orrego Arango  10 , Jesús A Álvarez-Álvarez  10 , Lina Rocío Riaño Cardozo  10 , Julio C Orellana  11 , Antonio Condino-Neto  12 , Cristina M Kokron  12 , Myrthes T Barros  12 , Lorena Regairaz  13 , Diana Cabanillas  13 , Carmen L N Suarez  14 , Nelson A Rosario  15 , Herberto J Chong-Neto  15 , Olga A Takano  16 , Maria I S V Nadaf  16 , Lillian S L Moraes  16 , Fabiola S Tavares  17 , Flaviane Rabelo  17 , Jessica Pino  18 , Wilmer C Calderon  19 , Daniel Mendoza-Quispe  19 , Ekaterini S Goudouris  20 , Virginia Patiño  21 , Cecilia Montenegro  21 , Monica S Souza  22 , Aniela BXCCastelo Branco  22 , Wilma C N Forte  23 , Flavia A A Carvalho  24 , Gesmar Segundo  25 , Marina F A Cheik  25 , Persio Roxo-Junior  26 , Maryanna Peres  26 , Annie M Oliveira  27 , Arnaldo C P Neto  28 , Maria Claudia Ortega-López  29 , Alejandro Lozano  30 , Natalia Andrea Lozano  30 , Leticia H Nieto  31 , Anete S Grumach  32 , Daniele C Costa  33 , Nelma M N Antunes  34 , Victor Nudelman  2 , Camila T M Pereira  35 , Maria D M Martinez  36 , Francisco J R Quiroz  37 , Aristoteles A Cardona  38 , Maria E Nuñez-Nuñez  39 , Jairo A Rodriguez  40 , Célia M Cuellar  41 , Gustavo Vijoditz  42 , Daniélli C Bichuetti-Silva  43 , Carolina C M Prando  44   45   46 , Sérgio L Amantéa  47 , Beatriz T Costa-Carvalho  3
Affiliations
Multicenter Study

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

Renan A Pereira et al. Immunol Res. 2024 Aug.

Abstract

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.

Keywords: Ataxia telangiectasia; Immunologic deficiency syndromes; Latin America; Primary immunodeficiency diseases; Survey.

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