@article{Solis2026,

title = {Appraisal of primary immunodeficiencies in Latin America and the Caribbean using the IPOPI PID Life Index – where are we now?},

author = {Leire Solis and Roberta Anido de Pena and Adli Ali and Antonio Condino-Neto and Nizar Mahlaoui and Lorena Regairaz and Silvia Sánchez-Ramón and Carolina Prando and Johan Prevot and Martine Pergent and Maria Cecilia Poli},

doi = {10.3389/fimmu.2026.1922796},

issn = {1664-3224},

year  = {2026},

date = {2026-09-24},

journal = {Front. Immunol.},

volume = {17},

publisher = {Frontiers Media SA},

abstract = {

                    Objective

                    Analyse the implementation of the 6 Principles of Care (PoC) for primary immunodeficiencies (PIDs) in Latin America and the Caribbean countries.

                  

                  

                    Methodology

                    Data was extracted from the IPOPI PID Life Index, an interactive tool measuring how it is to live with a PID in the 13 countries in Latin America and the Caribbean (Argentina, Bolivia, Brazil, Chile, Ecuador, El Salvador, Honduras, Mexico, Paraguay, Peru, Puerto Rico, Uruguay and Venezuela).

                  

                  

                    Results

                    Care for PIDs in the region varies greatly. Low diagnostic rates and limited diagnostic test options are a reality for the region. Almost all countries provide certain therapies for the treatment of PIDs, mostly anti-infectious therapies, immunoglobulin replacement therapies and vaccines. Biological therapies and curative treatments are less frequent in the countries covered. Universal health coverage for people living with PIDs remains heterogeneous and incomplete. Specialised centres and registries are also heterogeneously implemented. National organisations representing patients with PIDs exist in almost all countries, mainly focussing on general and medical awareness raising, and patient support through social activities.

                  

                  

                    Discussion and conclusion

                    PID care in Latin America and the Caribbean is steadily becoming a reality for many people living with PID. There have been significant improvements in terms of diagnosis, treatment and care in the region over the past decades. Still, there are significant inequalities across the different countries for the 6 PoCs for PID analysed. Joint efforts of medical specialists and patient organizations must continue to ensure an optimal environment for people living with PIDs in the region.

                  },

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{Jolles2026,

title = {Implementing calculated globulin screening for immunodeficiencies: The benefits and challenges},

author = {Stephen Jolles and Cecilia Poli and Nicholas L. Rider and Gabriela Negritu and Til Rendschmidt and Antonio Condino-Neto},

doi = {10.70962/jhi.20260028},

issn = {3065-8993},

year  = {2026},

date = {2026-09-07},

volume = {2},

number = {5},

publisher = {Rockefeller University Press},

abstract = {There is a need for pragmatic and cost-effective methodologies to facilitate earlier diagnosis of patients with primary and secondary immunodeficiencies, who often experience diagnostic delays that impact their quality of life, morbidity, and mortality. This review article will consider the utility of calculated globulin (CG) as a simple and unbiased screening tool for immunodeficiencies. We review literature indicating that CG can serve as an inexpensive and routinely performed proxy for immunoglobulin levels due to their established correlation. We also set out a workflow for the implementation of CG into clinical practice and discuss optimal approaches to embedding into laboratory reporting systems, and integration of AI approaches could expedite diagnoses. Finally, we discuss the challenges and pitfalls of CG screening, including the need for established CG cutoffs/action values across different patient age cohorts. Collaboration among biochemistry and immunology laboratories, clinicians, and patient organizations will be required to manage the logistics of effective broader implementation of CG screening into clinical practice.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{Suhet2026,

title = {Exploiting KREC: Time for newborn screening and beyond—proceedings from the First International KREC Consortium Meeting},

author = {Paola R. Suhet and Jordan Abbott and Roshini S. Abraham and Mei W. Baker and Oksana Boyarchuk and Karlla Brigatti and Manish J. Butte and Christopher Chang and Hey Chong and Antonio Condino-Neto and Zsuzsanna Gaál and Mariana P. Gouveia-Pimentel and Eyal Grunebaum and Stella Hartono and Hirokazu Kanegane and Anne Pham-Huy and Edgar Borges de Oliveira-Junior and Revathi Raj and Christine Seroogy and Pere Soler-Palacin and Raz Somech and Vanessa Tenembaum and Mirjam van der Burg and Jolan E. Walter},

doi = {10.1016/j.jaci.2026.09.003},

issn = {0091-6749},

year  = {2026},

date = {2026-09-00},

journal = {Journal of Allergy and Clinical Immunology},

publisher = {Elsevier BV},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{Gonçalves2026,

title = {Psoriasis-like skin inflammation drives an elongated mitochondrial network marked by functional failure in keratinocytes},

author = {Luís Eduardo Duarte Gonçalves and Anthony Gabry da Silveira and Luisa Menezes Silva and Bruno Ghirotto Nunes and Marcella Cipelli and Daniel Marconi Mendes and Patrick Cesar Ferreira and Ranieri Coelho Salgado and Lillian Nunes Gomes and Andressa Godoy Amaral and Paulo José Basso and Meire Ioshie Hiyane and Alessandra Sussulini and Antônio Condino Neto and Maria Fernanda Forni and Niels Olsen Saraiva Câmara},

doi = {10.1016/j.jdermsci.2026.08.002},

issn = {0923-1811},

year  = {2026},

date = {2026-08-00},

journal = {Journal of Dermatological Science},

publisher = {Elsevier BV},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{Kanegane2026,

title = {Editorial: Community series in primary immunodeficiencies worldwide, volume III},

author = {Hirokazu Kanegane and Antonio Condino-Neto and Jolan E. Walter},

doi = {10.3389/fimmu.2026.1913475},

issn = {1664-3224},

year  = {2026},

date = {2026-06-30},

journal = {Front. Immunol.},

volume = {17},

publisher = {Frontiers Media SA},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@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}

}