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

Abstract

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.