Ataxia Telangiectasia in Latin America: clinical features, immunodeficiency and mortality in a multicenter study
Authors: Pereira Renan Augusto , Dantas Ellen O , Loekmanwidjaja Jessica , Mazzucchelli Juliana T L , Aranda Carolina S , Serrano Maria E G , 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 Ekaterine S , Patiño Virginia , Montenegro Cecilia , Souza Monica S , Branco Aniela B X C Castelo , 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 , Nuñes-Nuñes 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 , Córdoba Elizabeth A De La Cruz 
Published: October 2023

Abstract
Ataxia-telangiectasia (AT) is a rare neurodegenerative 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 the factors associated with AT-related mortality. Referral centers (n = 46) from 9 Latin American countries participated in this retrospective cohort study. AT was defined with ESID Criteria. Designated physicians in each healthcare center reviewed medical records of 218 patients with AT. Data from 218 patients with AT were analyzed. Mean ± standard deviation ages at symptom onset and diagnosis were 1.6 ± 1.1 and 5.7 ± 3.5 years, respectively. Most (66.9%) patients presented recurrent airway infections, which was significantly associated with IgA deficiency. Humoral deficiencies included IgA deficiency in 60.8% of patients and IgG deficiency in 28.6%. Lymphopenia was present in most cases, mainly affecting T and B cells. Around half of patients used antibiotic prophylaxis (57.7%) and immunoglobulin replacement (49.1%). No complications due to live viral vaccines were reported. Their mean survival was 24.2 years and Kaplan-Meier 20-year-survival rate was 52.6%. Low IgG levels were associated with decreased life expectancy (hazard ratio 2.1; 95% CI, 1.11–3.93), whereas male sex was a protecting factor (hazard ratio 0.52; 95% CI, 0.27–0.99). There was a high frequency of recurrent infections and immunologic abnormalities in our sample of patients with AT. Higher mortality was associated with female gender and low IgG levels. These findings suggest that immunologic status should be investigated in all patients with AT, thus helping us to improve therapeutic strategies.