RESUMO
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.
Assuntos
Ataxia Telangiectasia , Humanos , Feminino , Masculino , América Latina/epidemiologia , Ataxia Telangiectasia/mortalidade , Ataxia Telangiectasia/imunologia , Ataxia Telangiectasia/diagnóstico , Estudos Retrospectivos , Criança , Pré-Escolar , Adulto , Adolescente , Lactente , Síndromes de Imunodeficiência/mortalidade , Síndromes de Imunodeficiência/epidemiologia , Síndromes de Imunodeficiência/imunologia , Adulto JovemRESUMO
The original version of abstract PO-162 "Chronic Granulomatous Disease in a Brazilian Patient Mimetizing Sarcoidosis" incorrectly listed the name of the second author as Micheli Barsioti. The correct spelling of the author's name is Michele Baziotti Man.