Dr. Antonio Condino-Neto

@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{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{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{pmid38287514,

title = {Severe combined immunodeficiency diagnosis and genetic defects},

author = {Carolina Sanchez Aranda and Mariana Pimentel Gouveia-Pereira and Celso Jose Mendanha da Silva and Maria Candida Faria Varanda Rizzo and Edson Ishizuka and Edgar Borges de Oliveira and Antonio Condino-Neto},

doi = {10.1111/imr.13310},

issn = {1600-065X},

year  = {2024},

date = {2024-03-01},

urldate = {2024-03-01},

journal = {Immunol Rev},

volume = {322},

number = {1},

pages = {138--147},

abstract = {Severe combined immunodeficiency (SCID) is a rare and life-threatening genetic disorder that severely impairs the immune system's ability to defend the body against infections. Often referred to as the "bubble boy" disease, SCID gained widespread recognition due to the case of David Vetter, a young boy who lived in a sterile plastic bubble to protect him from germs. SCID is typically present at birth, and it results from genetic mutations that affect the development and function of immune cells, particularly T cells and B cells. These immune cells are essential for identifying and fighting off infections caused by viruses, bacteria, and fungi. In SCID patients, the immune system is virtually non-existent, leaving them highly susceptible to recurrent, severe infections. There are several forms of SCID, with varying degrees of severity, but all share common features. Newborns with SCID often exhibit symptoms such as chronic diarrhea, thrush, skin rashes, and persistent infections that do not respond to standard treatments. Without prompt diagnosis and intervention, SCID can lead to life-threatening complications and a high risk of mortality. There are over 20 possible affected genes. Treatment options for SCID primarily involve immune reconstitution, with the most well-known approach being hematopoietic stem cell transplantation (HSCT). Alternatively, gene therapy is also available for some forms of SCID. Once treated successfully, SCID patients can lead relatively normal lives, but they may still require vigilant infection control measures and lifelong medical follow-up to manage potential complications. In conclusion, severe combined immunodeficiency is a rare but life-threatening genetic disorder that severely compromises the immune system's function, rendering affected individuals highly vulnerable to infections. Early diagnosis and appropriate treatment are fundamental. With this respect, newborn screening is progressively and dramatically improving the prognosis of SCID.},

keywords = {genética, imunidade},

pubstate = {published},

tppubtype = {article}

}

@article{pmid39507534,

title = {Calculated globulin can be used as a screening test for antibody deficiency in children and adolescents},

author = {Cristina Frias Sartorelli de Toledo Piza and Carolina Sanchez Aranda and Dirceu Solé and Stephen Jolles and Antonio Condino-Neto},

doi = {10.3389/fimmu.2024.1495564},

issn = {1664-3224},

year  = {2024},

date = {2024-01-01},

urldate = {2024-01-01},

journal = {Front Immunol},

volume = {15},

pages = {1495564},

abstract = {PURPOSE: Calculated globulin (CG, total protein minus albumin levels) correlate well with IgG levels and has been proposed as a suitable screening method for individuals with primary antibody deficiencies (PADs). We aimed to show the correlation of CG with IgG levels in children and adolescents, utilizing a common method for albumin measurement, bromocresol green.nnMETHODS: Individuals from two Allergy and Immunology clinics were invited to participate. Inclusion criteria were age < 18, stable conditions, and signed informed consent. We included 1084 individuals. Immunoglobulin G values were determined by immunoturbidimetry; the colorimetric bromocresol green method and the Architect Biuret method were utilized for the albumin and total protein (TP) measurements, respectively.nnRESULTS: A total of 1084 individuals were included in the analysis and divided into 4 age groups (0 to <1 year, 1 to <4 years, 4 to <10 years, and 10 to <18 years). For all patients, the mean age was 6.1 (± 5) years old, the mean IgG was 9.4 (± 4.7) g/L, and CG was 23.7 (± 5.9) g/L. The most frequent diagnosis were respiratory allergies, followed by inborn errors of immunity. IgG and CG varied according to age group. Cutoff values for hypogammaglobulinemia varied from 13.8 g/L in children < 1 year to 23.1 g/L in children and adolescents aged 10 to <18 years. CG sensitivity varied from 70.9% in children aged 1 to <4 years old to 95.8% in children 4 to <10. Specificity ranged from 87.5% in children 4 to <10 years old to 100% in children and adolescents aged 10 to <18 years.nnCONCLUSION: CG is a suitable screening test for hypogammaglobulinemia in children less than 18 years of age.},

keywords = {imunidade},

pubstate = {published},

tppubtype = {article}

}

@article{pmid37505322,

title = {Screening for Antibody Deficiencies in Adults by Serum Electrophoresis and Calculated Globin},

author = {Cristina Frias Sartorelli de Toledo Piza and Carolina Sanchez Aranda and Dirceu Solé and Stephen Jolles and Antonio Condino-Neto},

doi = {10.1007/s10875-023-01536-1},

issn = {1573-2592},

year  = {2023},

date = {2023-11-01},

urldate = {2023-11-01},

journal = {J Clin Immunol},

volume = {43},

number = {8},

pages = {1873--1880},

abstract = {PURPOSE: This study aimed to investigate the correlation between calculated globulin (CG, total protein level minus albumin level) and the gamma globulin fraction (Gamma), obtained from serum protein electrophoresis with serum IgG levels in adults (≥ 18 years).nnMETHODS: Using linear regression models, analyses of CG and Gamma levels correlation with IgG levels in adults were performed. Receiver-operator curves were created to determine cutoff values and the respective sensitivity and specificity measures.nnRESULTS: A total of 886 samples were analyzed. CG and Gamma were positively and statistically correlated with IgG levels (r = 0.4628 for CG, and = 0.7941 for Gamma, p < 0.0001 for both analyses). For the detection of hypogammaglobulinemia, i.e., IgG level below the reference value (6 g/L), a CG cutoff value of 24 g/L showed a sensitivity of 86.2% (95% CI 69.4-94.5) and a specificity of 92% (90.0-93.6). A Gamma cutoff value of 7.15 g/L yielded a sensitivity of 100% (88.3-100) and a specificity of 96.8 (95.3-97.8).nnCONCLUSION: Both CG and Gamma levels determined by protein electrophoresis analysis may be used to screen for antibody deficiencies in adults, enabling earlier diagnosis of antibody deficiencies in a routine clinical setting.},

keywords = {imunidade},

pubstate = {published},

tppubtype = {article}

}