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

IF 3.3 4区医学 Q3 IMMUNOLOGY

Immunologic Research Pub Date : 2024-08-01 Epub Date: 2024-06-04 DOI:10.1007/s12026-024-09494-5

Renan A Pereira, Ellen O Dantas, Jessica Loekmanwidjaja, Juliana T L Mazzucchelli, Carolina S Aranda, Maria E G Serrano, Elisabeth A De La Cruz Córdoba, Liliana Bezrodnik, Ileana Moreira, Janaira F S Ferreira, Vera M Dantas, Valéria S F Sales, Carmen C Fernandez, Maria M S Vilela, Isabela P Motta, Jose Luis Franco, Julio Cesar Orrego Arango, Jesús A Álvarez-Álvarez, Lina Rocío Riaño Cardozo, Julio C Orellana, Antonio Condino-Neto, Cristina M Kokron, Myrthes T Barros, Lorena Regairaz, Diana Cabanillas, Carmen L N Suarez, Nelson A Rosario, Herberto J Chong-Neto, Olga A Takano, Maria I S V Nadaf, Lillian S L Moraes, Fabiola S Tavares, Flaviane Rabelo, Jessica Pino, Wilmer C Calderon, Daniel Mendoza-Quispe, Ekaterini S Goudouris, Virginia Patiño, Cecilia Montenegro, Monica S Souza, Aniela BXCCastelo Branco, Wilma C N Forte, Flavia A A Carvalho, Gesmar Segundo, Marina F A Cheik, Persio Roxo-Junior, Maryanna Peres, Annie M Oliveira, Arnaldo C P Neto, Maria Claudia Ortega-López, Alejandro Lozano, Natalia Andrea Lozano, Leticia H Nieto, Anete S Grumach, Daniele C Costa, Nelma M N Antunes, Victor Nudelman, Camila T M Pereira, Maria D M Martinez, Francisco J R Quiroz, Aristoteles A Cardona, Maria E Nuñez-Nuñez, Jairo A Rodriguez, Célia M Cuellar, Gustavo Vijoditz, Daniélli C Bichuetti-Silva, Carolina C M Prando, Sérgio L Amantéa, Beatriz T Costa-Carvalho

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Abstract

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.

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拉丁美洲共济失调-特朗吉克斯综合征：一项多中心研究的临床特征、免疫缺陷和死亡率。

共济失调-毛细血管扩张症（AT）是一种罕见的遗传性疾病，可导致神经系统缺陷、毛细血管扩张和免疫缺陷。我们的目的是研究拉丁美洲共济失调-特朗吉克斯病患者的临床和免疫学特征，并分析与死亡率相关的因素。来自 9 个拉美国家的转诊中心参与了这项回顾性队列研究，共纳入 218 名患者。发病和确诊时的中位年龄（IQR）分别为1.0（1.0-2.0）岁和5.0（3.0-8.0）岁。大多数患者表现为反复气道感染，这与 IgA 缺乏症密切相关。60.8%的患者存在IgA缺乏症，28.6%的患者存在IgG缺乏症。大多数病例还存在T淋巴细胞和B淋巴细胞缺乏症。平均存活期为 24.2 年，卡普兰-米尔 20 年存活率为 52.6%，女性和 IgG 水平低的患者死亡率较高。这些研究结果表明，应该对所有AT患者的免疫状况进行调查。

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来源期刊

Immunologic Research 医学-免疫学

CiteScore

6.90

自引率

0.00%

发文量

审稿时长

6-12 weeks

期刊介绍： IMMUNOLOGIC RESEARCH represents a unique medium for the presentation, interpretation, and clarification of complex scientific data. Information is presented in the form of interpretive synthesis reviews, original research articles, symposia, editorials, and theoretical essays. The scope of coverage extends to cellular immunology, immunogenetics, molecular and structural immunology, immunoregulation and autoimmunity, immunopathology, tumor immunology, host defense and microbial immunity, including viral immunology, immunohematology, mucosal immunity, complement, transplantation immunology, clinical immunology, neuroimmunology, immunoendocrinology, immunotoxicology, translational immunology, and history of immunology.