Dr. Antonio Condino-Neto

@article{pmid40668659b,

title = {Immune cells display an abnormal maturation and a proinflammatory profile in telomere biology disorders},

author = {Willian R Gomes and Shan Hama and Giorgio Napolitani and Amandine Tan and Luiz Fernando B Catto and Flávia S Donaires and Bárbara A Santana and Vinícius S Carvalho and Edson Z Martinez and Antonio Condino-Neto and Mohammad M Karimi and Ghulam J Mufti and Rodrigo T Calado},

doi = {10.1182/bloodadvances.2025015976},

issn = {2473-9537},

year  = {2025},

date = {2025-10-01},

journal = {Blood Adv},

volume = {9},

number = {19},

pages = {4790--4805},

abstract = {Pathogenic germ line variants causing excessive telomere shortening may result in bone marrow failure, hematopoietic malignancy, and extramedullary complications, such as pulmonary fibrosis, liver cirrhosis, and solid tumors. Patients with short telomeres also develop immunodeficiency with low CD4+ T cells and impaired general immunosurveillance, particularly against solid neoplasms. We investigated a broad spectrum of lymphocyte subsets and myeloid immune cells from human patients with telomere biology disorders (TBDs) and matched healthy volunteers to understand further how the immune system is affected by telomere dysfunction. We used mass cytometry for deep-immunophenotyping peripheral blood mononuclear cells, followed by high-dimensional data analysis. Cytokines, chemokines, and growth factors were assessed in serum. Our results showed profound immune alterations in TBDs beyond those observed in aging, with low naïve lymphocytes and thymic hypofunction. We further observed that T helper (Th) subsets were markedly skewed, with an inverted Th2/Th1 ratio, and low Th17 and Th17.1 levels. T-cell activation and exhaustion markers were upregulated, whereas circulating mucosal-associated invariant T cells were significantly decreased and overactivated. Several serum cytokine levels were positively correlated with telomere length and blood counts, suggesting an association with marrow function. In aggregate, these findings suggest a proinflammatory profile in TBDs. Our data provide new details on how TBD affects immune cells, particularly lymphocytes, which may contribute to the clinical phenotypes.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid40668659,

title = {Immune cells display an abnormal maturation and a proinflammatory profile in telomere biology disorders},

author = {Willian R Gomes and Shan Hama and Giorgio Napolitani and Amandine Tan and Luiz Fernando B Catto and Flávia S Donaires and Bárbara A Santana and Vinícius S Carvalho and Edson Z Martinez and Antonio Condino-Neto and Mohammad M Karimi and Ghulam J Mufti and Rodrigo T Calado},

doi = {10.1182/bloodadvances.2025015976},

issn = {2473-9537},

year  = {2025},

date = {2025-10-01},

urldate = {2025-10-01},

journal = {Blood Adv},

volume = {9},

number = {19},

pages = {4790--4805},

abstract = {Pathogenic germ line variants causing excessive telomere shortening may result in bone marrow failure, hematopoietic malignancy, and extramedullary complications, such as pulmonary fibrosis, liver cirrhosis, and solid tumors. Patients with short telomeres also develop immunodeficiency with low CD4+ T cells and impaired general immunosurveillance, particularly against solid neoplasms. We investigated a broad spectrum of lymphocyte subsets and myeloid immune cells from human patients with telomere biology disorders (TBDs) and matched healthy volunteers to understand further how the immune system is affected by telomere dysfunction. We used mass cytometry for deep-immunophenotyping peripheral blood mononuclear cells, followed by high-dimensional data analysis. Cytokines, chemokines, and growth factors were assessed in serum. Our results showed profound immune alterations in TBDs beyond those observed in aging, with low naïve lymphocytes and thymic hypofunction. We further observed that T helper (Th) subsets were markedly skewed, with an inverted Th2/Th1 ratio, and low Th17 and Th17.1 levels. T-cell activation and exhaustion markers were upregulated, whereas circulating mucosal-associated invariant T cells were significantly decreased and overactivated. Several serum cytokine levels were positively correlated with telomere length and blood counts, suggesting an association with marrow function. In aggregate, these findings suggest a proinflammatory profile in TBDs. Our data provide new details on how TBD affects immune cells, particularly lymphocytes, which may contribute to the clinical phenotypes.},

keywords = {imunidade, telômeros},

pubstate = {published},

tppubtype = {article}

}

@article{pmid40597142b,

title = {Nutritional status and metabolic alterations in patients with ataxia-telangiectasia},

author = {Cristiano do Amaral de Leon and Sérgio Luis Amantea and Renan Augusto Pereira and Ellen O Dantas and Jéssica Loekmanwidjaja and Beatriz T Costa-Carvalho and Juliana T L Mazzucchelli and Carolina S Aranda and Maria E González-Serrano and Elizabeth Alejandra 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 L Navarrete and Maria M S Vilela and Isabella 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 Ekaterine S Goudouris and Virginia Patiño and Cecilia Montenegro and Monica S Souza and Aniela B X C Castelo Branco and Wilma C N Forte and Flavia A A Carvalho and Gesmar Segundo and Marina F A Cheik and Pérsio 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},

doi = {10.1186/s13023-025-03785-2},

issn = {1750-1172},

year  = {2025},

date = {2025-07-01},

journal = {Orphanet J Rare Dis},

volume = {20},

number = {1},

pages = {330},

abstract = {BACKGROUND: Ataxia-telangiectasia (A-T) is a DNA repair disorder characterized by progressive degeneration, immunodeficiency, cancer predisposition, malnutrition, metabolic disorders, and chronic liver disease. The study aims to describe the nutritional status and plasma levels of biomarkers of lipid status, metabolic profile, and liver function of patients with A-T.nnRESULTS: A total of 218 patients from 9 Latin American countries were included in the study. The distribution of patients according to nutritional status by age group revealed an over-time increase in the proportion of patients with severe thinness (p = 0.016). High glucose and triglyceride levels were observed in 9.5% and 23.6% of patients, respectively. Total cholesterol was high in 31.7, and 34.0% had abnormal LDL-c levels. In the analysis of paired samples, a progressive increase in aspartate aminotransferase was observed over time.nnCONCLUSIONS: The present results are comparable to those of previous studies also showing changes in nutritional status and in lipid, metabolic, and liver profiles over time. These findings confirm a high rate of thinness in patients with A-T and progressive deterioration as the disease progresses, as well as changes in plasma levels of biomarkers of lipid status, metabolic profile, and liver function.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid40597142,

title = {Nutritional status and metabolic alterations in patients with ataxia-telangiectasia},

author = {Cristiano do Amaral de Leon and Sérgio Luis Amantea and Renan Augusto Pereira and Ellen O Dantas and Jéssica Loekmanwidjaja and Beatriz T Costa-Carvalho and Juliana T L Mazzucchelli and Carolina S Aranda and Maria E González-Serrano and Elizabeth Alejandra 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 L Navarrete and Maria M S Vilela and Isabella 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 Ekaterine S Goudouris and Virginia Patiño and Cecilia Montenegro and Monica S Souza and Aniela B X C Castelo Branco and Wilma C N Forte and Flavia A A Carvalho and Gesmar Segundo and Marina F A Cheik and Pérsio 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},

doi = {10.1186/s13023-025-03785-2},

issn = {1750-1172},

year  = {2025},

date = {2025-07-01},

urldate = {2025-07-01},

journal = {Orphanet J Rare Dis},

volume = {20},

number = {1},

pages = {330},

abstract = {BACKGROUND: Ataxia-telangiectasia (A-T) is a DNA repair disorder characterized by progressive degeneration, immunodeficiency, cancer predisposition, malnutrition, metabolic disorders, and chronic liver disease. The study aims to describe the nutritional status and plasma levels of biomarkers of lipid status, metabolic profile, and liver function of patients with A-T.nnRESULTS: A total of 218 patients from 9 Latin American countries were included in the study. The distribution of patients according to nutritional status by age group revealed an over-time increase in the proportion of patients with severe thinness (p = 0.016). High glucose and triglyceride levels were observed in 9.5% and 23.6% of patients, respectively. Total cholesterol was high in 31.7, and 34.0% had abnormal LDL-c levels. In the analysis of paired samples, a progressive increase in aspartate aminotransferase was observed over time.nnCONCLUSIONS: The present results are comparable to those of previous studies also showing changes in nutritional status and in lipid, metabolic, and liver profiles over time. These findings confirm a high rate of thinness in patients with A-T and progressive deterioration as the disease progresses, as well as changes in plasma levels of biomarkers of lipid status, metabolic profile, and liver function.},

keywords = {ataxia-telangiectasia, nutrição},

pubstate = {published},

tppubtype = {article}

}

@article{pmid39950838b,

title = {Newborn screening for inborn errors of immunity in Brazil},

author = {Carolina Sanchez Aranda and Mariana Gouveia-Pereira Pimentel and Rafaela Rola Guimaraes and Juliana Folloni Fernandes and Maria Candida Faria Varanda Rizzo and Edson Ishizuka and Edgar Borges de Oliveira Junior and Sonia Marchezi Hadachi and Giselle Yuri Hayashi and Carlos Eugênio Fernandez de Andrade and Athenê Maria de Marco Mauro and Dirceu Sole and Antonio Condino-Neto},

doi = {10.1111/pai.70047},

issn = {1399-3038},

year  = {2025},

date = {2025-02-01},

journal = {Pediatr Allergy Immunol},

volume = {36},

number = {2},

pages = {e70047},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid39950838,

title = {Newborn screening for inborn errors of immunity in Brazil},

author = {Carolina Sanchez Aranda and Mariana Gouveia-Pereira Pimentel and Rafaela Rola Guimaraes and Juliana Folloni Fernandes and Maria Candida Faria Varanda Rizzo and Edson Ishizuka and Edgar Borges de Oliveira Junior and Sonia Marchezi Hadachi and Giselle Yuri Hayashi and Carlos Eugênio Fernandez de Andrade and Athenê Maria de Marco Mauro and Dirceu Sole and Antonio Condino-Neto},

doi = {10.1111/pai.70047},

issn = {1399-3038},

year  = {2025},

date = {2025-02-01},

urldate = {2025-02-01},

journal = {Pediatr Allergy Immunol},

volume = {36},

number = {2},

pages = {e70047},

keywords = {Brasil, Erros Inatos da Imunidade, imunidade, recém-nascidos},

pubstate = {published},

tppubtype = {article}

}

@article{pmid41016093b,

title = {Mortality rate and causes of death in inborn errors of immunity: A systematic review and meta-analysis},

author = {Saba Fekrvand and Zahra Hamidi Esfahani and Mohammadmehdi Yarahmadi and Ali Saeedi-Boroujeni and Helia Salehi and Ali Hakimelahi and Amir Almasi-Hashiani and Mahshid Rahmati and Sanaz Afshar-Ghasemlou and Najmeh Nameh Goshay Fard and Fateme Tarighat Monfared and Ehsan Khoshnezhad Afkham and Nazanin Fathi and Tannaz Moeini Shad and Fateme Babaha and Farzad Nazari and Matineh Nirouei and Amir Salehi Farid and Negin Sanadgol and Hosein Rafiemanesh and Mahsa Yousefpour Marzbali and Gholamreza Hassanpour and Peter Olbrich and Antonio Condino-Neto and Tomohiro Morio and Andrew R Gennery and Isabelle Meyts and Hans D Ochs and Hassan Abolhassani and Nima Rezaei and Reza Yazdani},

doi = {10.1016/j.mrrev.2025.108564},

issn = {1388-2139},

year  = {2025},

date = {2025-01-01},

journal = {Mutat Res Rev Mutat Res},

volume = {796},

pages = {108564},

abstract = {BACKGROUND: Patients with inborn errors of immunity (IEI) experience severe infectious and non-infectious complications, leading to an increased risk of mortality. Delayed diagnosis or misdiagnosis significantly contributes to the heightened mortality rates observed in IEI patients.nnOBJECTIVES: This study systematically reviews the causes of mortality in IEI patients with a meta-analysis to determine the mortality rate among patients with various IEI.nnMETHODS: Embase, ISI Web of Science, PubMed, and Scopus were searched (up to July 2024) using terms related to IEI and mortality.nnRESULTS: A total of 12,581 deceased IEI patients were included, with an overall reported mortality rate of 24.0 % (95 % confidence interval: 23.0-26.0 %) among all published IEI cases. This represents an approximately 27-fold higher mortality rate among IEI patients compared to the mean global mortality rate (24 % vs. 0.874 %). Severe combined immunodeficiency, chronic granulomatous disease, and ataxia-telangiectasia had the highest numbers of reported deceased cases (2304, 962, and 820 cases, respectively). However, familial hemophagocytic lymphohistiocytosis exhibited the highest mortality rate (49.0 %). The most common causes of death were infections, transplant-related mortality and non-infectious pulmonary complications, (3429, 2749, and 1141 cases), respectively. Among infectious causes of death, COVID-19 infection accounted for 10.8 % (370 cases).nnCONCLUSION: This study identifies specific types of IEI with the highest mortality rates and numbers, alongside immune component defects most strongly associated with increased mortality. Patients with immune dysregulation, defects in cellular immunity, and phagocyte function were particularly linked to higher mortality rates, underscoring the urgent need for improved management strategies for these IEIs.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid41016093,

title = {Mortality rate and causes of death in inborn errors of immunity: A systematic review and meta-analysis},

author = {Saba Fekrvand and Zahra Hamidi Esfahani and Mohammadmehdi Yarahmadi and Ali Saeedi-Boroujeni and Helia Salehi and Ali Hakimelahi and Amir Almasi-Hashiani and Mahshid Rahmati and Sanaz Afshar-Ghasemlou and Najmeh Nameh Goshay Fard and Fateme Tarighat Monfared and Ehsan Khoshnezhad Afkham and Nazanin Fathi and Tannaz Moeini Shad and Fateme Babaha and Farzad Nazari and Matineh Nirouei and Amir Salehi Farid and Negin Sanadgol and Hosein Rafiemanesh and Mahsa Yousefpour Marzbali and Gholamreza Hassanpour and Peter Olbrich and Antonio Condino-Neto and Tomohiro Morio and Andrew R Gennery and Isabelle Meyts and Hans D Ochs and Hassan Abolhassani and Nima Rezaei and Reza Yazdani},

doi = {10.1016/j.mrrev.2025.108564},

issn = {1388-2139},

year  = {2025},

date = {2025-01-01},

urldate = {2025-01-01},

journal = {Mutat Res Rev Mutat Res},

volume = {796},

pages = {108564},

abstract = {BACKGROUND: Patients with inborn errors of immunity (IEI) experience severe infectious and non-infectious complications, leading to an increased risk of mortality. Delayed diagnosis or misdiagnosis significantly contributes to the heightened mortality rates observed in IEI patients.nnOBJECTIVES: This study systematically reviews the causes of mortality in IEI patients with a meta-analysis to determine the mortality rate among patients with various IEI.nnMETHODS: Embase, ISI Web of Science, PubMed, and Scopus were searched (up to July 2024) using terms related to IEI and mortality.nnRESULTS: A total of 12,581 deceased IEI patients were included, with an overall reported mortality rate of 24.0 % (95 % confidence interval: 23.0-26.0 %) among all published IEI cases. This represents an approximately 27-fold higher mortality rate among IEI patients compared to the mean global mortality rate (24 % vs. 0.874 %). Severe combined immunodeficiency, chronic granulomatous disease, and ataxia-telangiectasia had the highest numbers of reported deceased cases (2304, 962, and 820 cases, respectively). However, familial hemophagocytic lymphohistiocytosis exhibited the highest mortality rate (49.0 %). The most common causes of death were infections, transplant-related mortality and non-infectious pulmonary complications, (3429, 2749, and 1141 cases), respectively. Among infectious causes of death, COVID-19 infection accounted for 10.8 % (370 cases).nnCONCLUSION: This study identifies specific types of IEI with the highest mortality rates and numbers, alongside immune component defects most strongly associated with increased mortality. Patients with immune dysregulation, defects in cellular immunity, and phagocyte function were particularly linked to higher mortality rates, underscoring the urgent need for improved management strategies for these IEIs.},

keywords = {Erros Inatos da Imunidade},

pubstate = {published},

tppubtype = {article}

}