Dr. Antonio Condino-Neto

@article{pmid39576310b,

title = {Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C)},

author = {Evangelos Bellos and Dilys Santillo and Pierre Vantourout and Heather R Jackson and Amedine Duret and Henry Hearn and Yoann Seeleuthner and Estelle Talouarn and Stephanie Hodeib and Harsita Patel and Oliver Powell and Sophya Yeoh and Sobia Mustafa and Dominic Habgood-Coote and Samuel Nichols and Leire Estramiana Elorrieta and Giselle D'Souza and Victoria J Wright and Diego Estrada-Rivadeneyra and Adriana H Tremoulet and Kirsten B Dummer and Stejara A Netea and Antonio Condino-Neto and Yu Lung Lau and Esmeralda Núñez Cuadros and Julie Toubiana and Marisol Holanda Pena and Frédéric Rieux-Laucat and Charles-Edouard Luyt and Filomeen Haerynck and Jean Louis Mège and Samya Chakravorty and Elie Haddad and Marie-Paule Morin and Özge Metin Akcan and Sevgi Keles and Melike Emiroglu and Gulsum Alkan and Sadiye Kübra Tüter Öz and Sefika Elmas Bozdemir and Guillaume Morelle and Alla Volokha and Yasemin Kendir-Demirkol and Betul Sözeri and Taner Coskuner and Aysun Yahsi and Belgin Gulhan and Saliha Kanik-Yuksek and Gulsum Iclal Bayhan and Aslinur Ozkaya-Parlakay and Osman Yesilbas and Nevin Hatipoglu and Tayfun Ozcelik and Alexandre Belot and Emilie Chopin and Vincent Barlogis and Esra Sevketoglu and Emin Menentoglu and Zeynep Gokce Gayretli Aydin and Marketa Bloomfield and Suzan A AlKhater and Cyril Cyrus and Yuriy Stepanovskiy and Anastasiia Bondarenko and Fatma Nur Öz and Meltem Polat and Jiří Fremuth and Jan Lebl and Amyrath Geraldo and Emmanuelle Jouanguy and  and  and  and Michael J Carter and Paul Wellman and Mark Peters and Rebeca Pérez de Diego and Lindsey Ann Edwards and Christopher Chiu and Mahdad Noursadeghi and Alexandre Bolze and Chisato Shimizu and Myrsini Kaforou and Melissa Shea Hamilton and Jethro A Herberg and Erica G Schmitt and Agusti Rodriguez-Palmero and Aurora Pujol and Jihoon Kim and Aurélie Cobat and Laurent Abel and Shen-Ying Zhang and Jean-Laurent Casanova and Taco W Kuijpers and Jane C Burns and Michael Levin and Adrian C Hayday and Vanessa Sancho-Shimizu},

doi = {10.1084/jem.20240699},

issn = {1540-9538},

year  = {2024},

date = {2024-12-01},

journal = {J Exp Med},

volume = {221},

number = {12},

abstract = {Multisystem inflammatory syndrome in children (MIS-C) is a rare condition following SARS-CoV-2 infection associated with intestinal manifestations. Genetic predisposition, including inborn errors of the OAS-RNAseL pathway, has been reported. We sequenced 154 MIS-C patients and utilized a novel statistical framework of gene burden analysis, "burdenMC," which identified an enrichment for rare predicted-deleterious variants in BTNL8 (OR = 4.2, 95% CI: 3.5-5.3, P < 10-6). BTNL8 encodes an intestinal epithelial regulator of Vγ4+γδ T cells implicated in regulating gut homeostasis. Enrichment was exclusive to MIS-C, being absent in patients with COVID-19 or bacterial disease. Using an available functional test for BTNL8, rare variants from a larger cohort of MIS-C patients (n = 835) were tested which identified eight variants in 18 patients (2.2%) with impaired engagement of Vγ4+γδ T cells. Most of these variants were in the B30.2 domain of BTNL8 implicated in sensing epithelial cell status. These findings were associated with altered intestinal permeability, suggesting a possible link between disrupted gut homeostasis and MIS-C-associated enteropathy triggered by SARS-CoV-2.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid39858427b,

title = {Congenital Zika Syndrome: Insights from Integrated Proteomic and Metabolomic Analysis},

author = {Leticia Gomes-de-Pontes and Lucila Akune Barreiros and Lillian Nunes Gomes and Ranieri Coelho Salgado and Sarah Maria da Silva Napoleão and Paulo V Soeiro-Pereira and Saulo Duarte Passos and Antonio Condino-Neto},

doi = {10.3390/biom15010032},

issn = {2218-273X},

year  = {2024},

date = {2024-12-01},

journal = {Biomolecules},

volume = {15},

number = {1},

abstract = { In this study, we investigated the role of extracellular vesicles (EVs) in the pathogenesis of Congenital Zika Syndrome (CZS). Previous studies have highlighted the role of EVs in intercellular communication and the modulation of biological processes during viral infections, motivating our in-depth analysis. Our objective was to identify specific molecular signatures in the EVs of patients with CZS, focusing on their potential as biomarkers and on cellular pathways affected by the infection.  We conducted advanced proteomic and metabolomic analyses using mass spectrometry for protein and metabolite identification. EVs were isolated from CZS patient samples and control groups using Izon qEV size-exclusion chromatography columns.  The analyzed EVs presented distinct molecular profiles in patients with CZS. Proteomic analysis revealed significant alterations in specific proteins, suggesting involvement in the PI3K-AKT-mTOR pathway, while metabolomics highlighted metabolites related to critical processes in Zika virus pathogenesis. These findings suggest a key role for the PI3K-AKT-mTOR pathway in regulating cellular processes during infection and indicate the involvement of EVs in intercellular communication. Additionally, the results identified potential biomarkers capable of aiding early diagnosis and assessing disease progression.  This study demonstrates that EVs play a crucial role in intercellular communication during Zika virus infection. The identification of specific alterations in the PI3K-AKT-mTOR pathway highlights a possible therapeutic target, providing new opportunities for the development of more effective treatment strategies for CZS. Our findings significantly advance the understanding of CZS and underscore the need for further investigations using advanced techniques to validate and explore these potential molecular targets.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid39576310,

title = {Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C)},

author = {Evangelos Bellos and Dilys Santillo and Pierre Vantourout and Heather R Jackson and Amedine Duret and Henry Hearn and Yoann Seeleuthner and Estelle Talouarn and Stephanie Hodeib and Harsita Patel and Oliver Powell and Sophya Yeoh and Sobia Mustafa and Dominic Habgood-Coote and Samuel Nichols and Leire Estramiana Elorrieta and Giselle D'Souza and Victoria J Wright and Diego Estrada-Rivadeneyra and Adriana H Tremoulet and Kirsten B Dummer and Stejara A Netea and Antonio Condino-Neto and Yu Lung Lau and Esmeralda Núñez Cuadros and Julie Toubiana and Marisol Holanda Pena and Frédéric Rieux-Laucat and Charles-Edouard Luyt and Filomeen Haerynck and Jean Louis Mège and Samya Chakravorty and Elie Haddad and Marie-Paule Morin and Özge Metin Akcan and Sevgi Keles and Melike Emiroglu and Gulsum Alkan and Sadiye Kübra Tüter Öz and Sefika Elmas Bozdemir and Guillaume Morelle and Alla Volokha and Yasemin Kendir-Demirkol and Betul Sözeri and Taner Coskuner and Aysun Yahsi and Belgin Gulhan and Saliha Kanik-Yuksek and Gulsum Iclal Bayhan and Aslinur Ozkaya-Parlakay and Osman Yesilbas and Nevin Hatipoglu and Tayfun Ozcelik and Alexandre Belot and Emilie Chopin and Vincent Barlogis and Esra Sevketoglu and Emin Menentoglu and Zeynep Gokce Gayretli Aydin and Marketa Bloomfield and Suzan A AlKhater and Cyril Cyrus and Yuriy Stepanovskiy and Anastasiia Bondarenko and Fatma Nur Öz and Meltem Polat and Jiří Fremuth and Jan Lebl and Amyrath Geraldo and Emmanuelle Jouanguy and and and and Michael J Carter and Paul Wellman and Mark Peters and Rebeca Pérez de Diego and Lindsey Ann Edwards and Christopher Chiu and Mahdad Noursadeghi and Alexandre Bolze and Chisato Shimizu and Myrsini Kaforou and Melissa Shea Hamilton and Jethro A Herberg and Erica G Schmitt and Agusti Rodriguez-Palmero and Aurora Pujol and Jihoon Kim and Aurélie Cobat and Laurent Abel and Shen-Ying Zhang and Jean-Laurent Casanova and Taco W Kuijpers and Jane C Burns and Michael Levin and Adrian C Hayday and Vanessa Sancho-Shimizu},

doi = {10.1084/jem.20240699},

issn = {1540-9538},

year  = {2024},

date = {2024-12-01},

urldate = {2024-12-01},

journal = {J Exp Med},

volume = {221},

number = {12},

abstract = {Multisystem inflammatory syndrome in children (MIS-C) is a rare condition following SARS-CoV-2 infection associated with intestinal manifestations. Genetic predisposition, including inborn errors of the OAS-RNAseL pathway, has been reported. We sequenced 154 MIS-C patients and utilized a novel statistical framework of gene burden analysis, "burdenMC," which identified an enrichment for rare predicted-deleterious variants in BTNL8 (OR = 4.2, 95% CI: 3.5-5.3, P < 10-6). BTNL8 encodes an intestinal epithelial regulator of Vγ4+γδ T cells implicated in regulating gut homeostasis. Enrichment was exclusive to MIS-C, being absent in patients with COVID-19 or bacterial disease. Using an available functional test for BTNL8, rare variants from a larger cohort of MIS-C patients (n = 835) were tested which identified eight variants in 18 patients (2.2%) with impaired engagement of Vγ4+γδ T cells. Most of these variants were in the B30.2 domain of BTNL8 implicated in sensing epithelial cell status. These findings were associated with altered intestinal permeability, suggesting a possible link between disrupted gut homeostasis and MIS-C-associated enteropathy triggered by SARS-CoV-2.},

keywords = {genética},

pubstate = {published},

tppubtype = {article}

}

@article{pmid39858427,

title = {Congenital Zika Syndrome: Insights from Integrated Proteomic and Metabolomic Analysis},

author = {Leticia Gomes-de-Pontes and Lucila Akune Barreiros and Lillian Nunes Gomes and Ranieri Coelho Salgado and Sarah Maria da Silva Napoleão and Paulo V Soeiro-Pereira and Saulo Duarte Passos and Antonio Condino-Neto},

doi = {10.3390/biom15010032},

issn = {2218-273X},

year  = {2024},

date = {2024-12-01},

urldate = {2024-12-01},

journal = {Biomolecules},

volume = {15},

number = {1},

abstract = { In this study, we investigated the role of extracellular vesicles (EVs) in the pathogenesis of Congenital Zika Syndrome (CZS). Previous studies have highlighted the role of EVs in intercellular communication and the modulation of biological processes during viral infections, motivating our in-depth analysis. Our objective was to identify specific molecular signatures in the EVs of patients with CZS, focusing on their potential as biomarkers and on cellular pathways affected by the infection.  We conducted advanced proteomic and metabolomic analyses using mass spectrometry for protein and metabolite identification. EVs were isolated from CZS patient samples and control groups using Izon qEV size-exclusion chromatography columns.  The analyzed EVs presented distinct molecular profiles in patients with CZS. Proteomic analysis revealed significant alterations in specific proteins, suggesting involvement in the PI3K-AKT-mTOR pathway, while metabolomics highlighted metabolites related to critical processes in Zika virus pathogenesis. These findings suggest a key role for the PI3K-AKT-mTOR pathway in regulating cellular processes during infection and indicate the involvement of EVs in intercellular communication. Additionally, the results identified potential biomarkers capable of aiding early diagnosis and assessing disease progression.  This study demonstrates that EVs play a crucial role in intercellular communication during Zika virus infection. The identification of specific alterations in the PI3K-AKT-mTOR pathway highlights a possible therapeutic target, providing new opportunities for the development of more effective treatment strategies for CZS. Our findings significantly advance the understanding of CZS and underscore the need for further investigations using advanced techniques to validate and explore these potential molecular targets.},

keywords = {Zika},

pubstate = {published},

tppubtype = {article}

}

@article{pmid39365299b,

title = {First Brazilian Case Report of Unrelated Patients with Identical ISG15 Mutation},

author = {Sarah Maria da Silva Napoleao and Ranieri Coelho Salgado and Janaira Fernandes Severo Ferreira and Mayra de Barros Dorna and Thais Costa Lima de Moura and Tábata Takahashi França and Lucila Akune Barreiros and Lillian Nunes Gomes and Antonio Condino-Neto},

doi = {10.1007/s10875-024-01811-9},

issn = {1573-2592},

year  = {2024},

date = {2024-10-01},

journal = {J Clin Immunol},

volume = {45},

number = {1},

pages = {21},

abstract = {BACKGROUND: ISG15 deficiency is a mixed syndrome of Mendelian susceptibility to mycobacterial infections (MSMD), a rare inherited condition characterized primarily by recurrent infections from low-virulence mycobacteria and monogenic type I interferonopathy.nnOBJECTIVE: To characterize the laboratory and molecular features of two patients from different families affected by the same ISG15 variant.nnMETHODS: We began with clinical characterization and investigation, assessed IL-12/IFN-γ production, performed genetic characterization through WES and Sanger sequencing, conducted an in silico molecular analysis of the genetic ISG15 variant's protein impact, and utilized RNAseq for transcriptome analysis to understand pathway impacts on ISG15-deficient subjects from unrelated families.nnRESULTS: A mutation in the ISG15 gene was identified, affecting two patients treated in different hospitals and cities in Brazil (Fortaleza and Sao Paulo), who are also members of unrelated families. Both patients showed low IFN-γ production when stimulated with BCG or BCG + IL-12. ISG15 deficiency presented with two distinct clinical phenotypes: infectious and neurological. It was identified that both patients are homozygous for the variant (c.83 T > A). Furthermore, it was observed that the mutant protein p.L28Q results in an unstable protein with increased flexibility (ΔΔG: -2.400 kcal/mol). Transcriptome analysis revealed 1321 differentially expressed genes, with significant upregulation in interferon pathways, showing higher expression in patients compared to controls.nnCONCLUSION: This study describes the first reported cases in Brazil of two unrelated patients with the same ISG15 mutation c.83 T > A, exhibiting infectious features such as mycobacterial infections and systemic candidiasis, neurological findings, and skin lesions, without adverse reactions to the BCG vaccine.nnCLINICAL IMPLICATIONS: Reporting ISG15 gene mutations in Brazilian patients enhances understanding of genetic susceptibilities, guiding effective diagnostics and treatment. Identifying high-risk individuals aids clinical practices, genetic counseling, and influences public health policies. We have identified the first case in Brazil of the same ISG15 variant c.83 T > A that was identified in two unrelated patients with distinct clinical phenotypes, infectious and neurological.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid39436497b,

title = {The Latin American Society for Immunodeficiencies Registry},

author = {Gisela Seminario and Maria Edith Gonzalez-Serrano and Carolina Sanchez Aranda and Anete Sevciovic Grumach and Gesmar Rodrigues Silva Segundo and Lorena Regairaz and Aristoteles Alvares Cardona and  and Juan Carlos Aldave Becerra and Cecilia Poli and Alejandra King and Fatima Rodrigues Fernandes and Lily Leiva and Jose Luis Franco and Francisco Javier Espinosa-Rosales and Ricardo Sorensen and Beatriz Tavares Costa Carvalho and Liliana Bezrodnik and Antonio Condino-Neto},

doi = {10.1007/s10875-024-01822-6},

issn = {1573-2592},

year  = {2024},

date = {2024-10-01},

journal = {J Clin Immunol},

volume = {45},

number = {1},

pages = {28},

abstract = {Purpose - The Latin American Society of Immunodeficiencies (LASID) Registry was established in 2009 to collect data on Inborn Errors of Immunity (IEI) patients in the region. Although several reports have been published regarding LASID data, this is the first report of the entire dataset. Methods - The European Society of Immunodeficiencies (ESID) donated the online platform in 2008. Data was collected from participating centers from Apr 13, 2009, to Dec 31, 2022, and included demographic, clinical, and follow-up information. Results - A total of 9307 patients were included in the database. At the end of the study period, 8,805 patients were alive or lost to follow-up, and 502 were deceased. The most common type of IEI was predominantly antibody deficiency (PAD, 60.35%), and selective IgA deficiency was the most frequent diagnosis (1627 patients, 17.48%), followed by Common Variable Immune Deficiency (CVID, 1191 patients). Most patients (78.16%) were ≤ 18 years old at inclusion, and the median age at diagnosis was 4.77 years. The median time to diagnosis was 5.04 years. Antibiotics were prescribed in 32.3% of visits, followed by immunoglobulins (29.49% ). Hematopoietic stem cell transplantation was performed in 5.03% of patients. Omenn syndrome was the most common disease in deceased patients, with a mortality rate of 52.63%. Conclusion - This study contributes to our understanding of IEIs in Latin America and highlights the importance of early diagnosis, appropriate treatments, and improved data collection to optimize patient outcome.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid39365299,

title = {First Brazilian Case Report of Unrelated Patients with Identical ISG15 Mutation},

author = {Sarah Maria da Silva Napoleao and Ranieri Coelho Salgado and Janaira Fernandes Severo Ferreira and Mayra de Barros Dorna and Thais Costa Lima de Moura and Tábata Takahashi França and Lucila Akune Barreiros and Lillian Nunes Gomes and Antonio Condino-Neto},

doi = {10.1007/s10875-024-01811-9},

issn = {1573-2592},

year  = {2024},

date = {2024-10-01},

urldate = {2024-10-01},

journal = {J Clin Immunol},

volume = {45},

number = {1},

pages = {21},

abstract = {BACKGROUND: ISG15 deficiency is a mixed syndrome of Mendelian susceptibility to mycobacterial infections (MSMD), a rare inherited condition characterized primarily by recurrent infections from low-virulence mycobacteria and monogenic type I interferonopathy.nnOBJECTIVE: To characterize the laboratory and molecular features of two patients from different families affected by the same ISG15 variant.nnMETHODS: We began with clinical characterization and investigation, assessed IL-12/IFN-γ production, performed genetic characterization through WES and Sanger sequencing, conducted an in silico molecular analysis of the genetic ISG15 variant's protein impact, and utilized RNAseq for transcriptome analysis to understand pathway impacts on ISG15-deficient subjects from unrelated families.nnRESULTS: A mutation in the ISG15 gene was identified, affecting two patients treated in different hospitals and cities in Brazil (Fortaleza and Sao Paulo), who are also members of unrelated families. Both patients showed low IFN-γ production when stimulated with BCG or BCG + IL-12. ISG15 deficiency presented with two distinct clinical phenotypes: infectious and neurological. It was identified that both patients are homozygous for the variant (c.83 T > A). Furthermore, it was observed that the mutant protein p.L28Q results in an unstable protein with increased flexibility (ΔΔG: -2.400 kcal/mol). Transcriptome analysis revealed 1321 differentially expressed genes, with significant upregulation in interferon pathways, showing higher expression in patients compared to controls.nnCONCLUSION: This study describes the first reported cases in Brazil of two unrelated patients with the same ISG15 mutation c.83 T > A, exhibiting infectious features such as mycobacterial infections and systemic candidiasis, neurological findings, and skin lesions, without adverse reactions to the BCG vaccine.nnCLINICAL IMPLICATIONS: Reporting ISG15 gene mutations in Brazilian patients enhances understanding of genetic susceptibilities, guiding effective diagnostics and treatment. Identifying high-risk individuals aids clinical practices, genetic counseling, and influences public health policies. We have identified the first case in Brazil of the same ISG15 variant c.83 T > A that was identified in two unrelated patients with distinct clinical phenotypes, infectious and neurological.},

keywords = {genética},

pubstate = {published},

tppubtype = {article}

}

@article{pmid39436497,

title = {The Latin American Society for Immunodeficiencies Registry},

author = {Gisela Seminario and Maria Edith Gonzalez-Serrano and Carolina Sanchez Aranda and Anete Sevciovic Grumach and Gesmar Rodrigues Silva Segundo and Lorena Regairaz and Aristoteles Alvares Cardona and and Juan Carlos Aldave Becerra and Cecilia Poli and Alejandra King and Fatima Rodrigues Fernandes and Lily Leiva and Jose Luis Franco and Francisco Javier Espinosa-Rosales and Ricardo Sorensen and Beatriz Tavares Costa Carvalho and Liliana Bezrodnik and Antonio Condino-Neto},

doi = {10.1007/s10875-024-01822-6},

issn = {1573-2592},

year  = {2024},

date = {2024-10-01},

urldate = {2024-10-01},

journal = {J Clin Immunol},

volume = {45},

number = {1},

pages = {28},

abstract = {Purpose - The Latin American Society of Immunodeficiencies (LASID) Registry was established in 2009 to collect data on Inborn Errors of Immunity (IEI) patients in the region. Although several reports have been published regarding LASID data, this is the first report of the entire dataset. Methods - The European Society of Immunodeficiencies (ESID) donated the online platform in 2008. Data was collected from participating centers from Apr 13, 2009, to Dec 31, 2022, and included demographic, clinical, and follow-up information. Results - A total of 9307 patients were included in the database. At the end of the study period, 8,805 patients were alive or lost to follow-up, and 502 were deceased. The most common type of IEI was predominantly antibody deficiency (PAD, 60.35%), and selective IgA deficiency was the most frequent diagnosis (1627 patients, 17.48%), followed by Common Variable Immune Deficiency (CVID, 1191 patients). Most patients (78.16%) were ≤ 18 years old at inclusion, and the median age at diagnosis was 4.77 years. The median time to diagnosis was 5.04 years. Antibiotics were prescribed in 32.3% of visits, followed by immunoglobulins (29.49% ). Hematopoietic stem cell transplantation was performed in 5.03% of patients. Omenn syndrome was the most common disease in deceased patients, with a mortality rate of 52.63%. Conclusion - This study contributes to our understanding of IEIs in Latin America and highlights the importance of early diagnosis, appropriate treatments, and improved data collection to optimize patient outcome.},

keywords = {imunidade},

pubstate = {published},

tppubtype = {article}

}

@article{pmid38834764b,

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

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

doi = {10.1007/s12026-024-09494-5},

issn = {1559-0755},

year  = {2024},

date = {2024-08-01},

journal = {Immunol Res},

volume = {72},

number = {4},

pages = {864--873},

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.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid38834764,

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

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

doi = {10.1007/s12026-024-09494-5},

issn = {1559-0755},

year  = {2024},

date = {2024-08-01},

urldate = {2024-08-01},

journal = {Immunol Res},

volume = {72},

number = {4},

pages = {864--873},

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.},

keywords = {ataxia-telangiectasia},

pubstate = {published},

tppubtype = {article}

}