%0 Journal Article
%T Ataxia-telangiectasia in Latin America: clinical features, immunodeficiency, and mortality in a multicenter study.
%A Pereira RA
%A Dantas EO
%A Loekmanwidjaja J
%A Mazzucchelli JTL
%A Aranda CS
%A Serrano MEG
%A De La Cruz Córdoba EA
%A Bezrodnik L
%A Moreira I
%A Ferreira JFS
%A Dantas VM
%A Sales VSF
%A Fernandez CC
%A Vilela MMS
%A Motta IP
%A Franco JL
%A Arango JCO
%A Álvarez-Álvarez JA
%A Cardozo LRR
%A Orellana JC
%A Condino-Neto A
%A Kokron CM
%A Barros MT
%A Regairaz L
%A Cabanillas D
%A Suarez CLN
%A Rosario NA
%A Chong-Neto HJ
%A Takano OA
%A Nadaf MISV
%A Moraes LSL
%A Tavares FS
%A Rabelo F
%A Pino J
%A Calderon WC
%A Mendoza-Quispe D
%A Goudouris ES
%A Patiño V
%A Montenegro C
%A Souza MS
%A Branco AB
%A Forte WCN
%A Carvalho FAA
%A Segundo G
%A Cheik MFA
%A Roxo-Junior P
%A Peres M
%A Oliveira AM
%A Neto ACP
%A Ortega-López MC
%A Lozano A
%A Lozano NA
%A Nieto LH
%A Grumach AS
%A Costa DC
%A Antunes NMN
%A Nudelman V
%A Pereira CTM
%A Martinez MDM
%A Quiroz FJR
%A Cardona AA
%A Nuñez-Nuñez ME
%A Rodriguez JA
%A Cuellar CM
%A Vijoditz G
%A Bichuetti-Silva DC
%A Prando CCM
%A Amantéa SL
%A Costa-Carvalho BT
%J Immunol Res
%V 0
%N 0
%D 2024 Jun 4
%M 38834764
%F 4.505
%R 10.1007/s12026-024-09494-5
%X 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.