Ataxia-telangiectasia in Latin America: clinical features, immunodeficiency, and mortality in a multicenter study.
Renan A PereiraEllen O DantasJessica LoekmanwidjajaJuliana T L MazzucchelliCarolina S ArandaMaria E G SerranoElisabeth A De La Cruz CórdobaLiliana BezrodnikIleana MoreiraJanaira F S FerreiraVera M DantasValéria S F SalesCarmen C FernandezMaria M S VilelaIsabela P MottaJose Luis FrancoJulio Cesar Orrego ArangoJesús A Álvarez-ÁlvarezLina Rocío Riaño CardozoJulio C OrellanaAntonio Condino-NetoCristina M KokronMyrthes T BarrosLorena RegairazDiana CabanillasCarmen L N SuarezNelson A RosarioHerberto J Chong-NetoOlga A TakanoMaria I S V NadafLillian S L MoraesFabiola S TavaresFlaviane RabeloJessica PinoWilmer C CalderonDaniel Mendoza-QuispeEkaterini S GoudourisVirginia PatiñoCecilia MontenegroMonica S SouzaAniela BXCCastelo BrancoWilma C N ForteFlavia A A CarvalhoGesmar SegundoMarina F A CheikPersio Roxo-JuniorMaryanna PeresAnnie M OliveiraArnaldo C P NetoMaria Claudia Ortega-LópezAlejandro LozanoNatalia Andrea LozanoLeticia H NietoAnete S GrumachDaniele C CostaNelma M N AntunesVictor NudelmanCamila T M PereiraMaria D M MartinezFrancisco J R QuirozAristoteles A CardonaMaria E Nuñez-NuñezJairo A RodriguezCélia M CuellarGustavo VijoditzDaniélli C Bichuetti-SilvaCarolina C M PrandoSérgio L AmantéaBeatriz T Costa-CarvalhoPublished in: Immunologic research (2024)
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.