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

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 Amer...

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Published in:	Immunologic research Vol. 72; no. 4; pp. 864 - 873
Main Authors:	Pereira, Renan A., Dantas, Ellen O., Loekmanwidjaja, Jessica, Mazzucchelli, Juliana T. L., Aranda, Carolina S., Serrano, Maria E. G., De La Cruz Córdoba, Elisabeth A., 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, Ekaterini S., Patiño, Virginia, Montenegro, Cecilia, Souza, Monica S., Branco, Aniela BXCCastelo, 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., Nuñez-Nuñez, 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.
Format:	Journal Article
Language:	English
Published:	New York Springer US 01-08-2024 Springer Nature B.V
Subjects:	Adolescent Adult Age Allergology Ataxia Ataxia telangiectasia Ataxia Telangiectasia - diagnosis Ataxia Telangiectasia - immunology Ataxia Telangiectasia - mortality Biomedical and Life Sciences Biomedicine Cell cycle Child Child, Preschool Ear diseases Female Genetic disorders Humans Immune system Immunodeficiency Immunoglobulin A Immunoglobulin G Immunologic Deficiency Syndromes - epidemiology Immunologic Deficiency Syndromes - immunology Immunologic Deficiency Syndromes - mortality Immunology Infant Infections Internal Medicine Kinases Latin America - epidemiology Male Medicine/Public Health Mortality Patients Pneumonia Radiation Retrospective Studies Signal transduction Sinusitis Statistical analysis Survival Young Adult Latin America Primary immunodeficiency diseases Ataxia telangiectasia Survey Immunologic deficiency syndromes Latin America
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Summary:	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.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0257-277X 1559-0755 1559-0755
DOI:	10.1007/s12026-024-09494-5