Dr. Antonio Condino-Neto

@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{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}

}

@article{pmid38974948,

title = {Newborn screening for inborn errors of immunity: The status worldwide},

author = {Herberto José Chong-Neto and Nesrine Radwan and Antônio Condino-Neto and Nelson Augusto Rosário Filho and José Antonio Ortega-Martell and Zeinab A El-Sayed},

doi = {10.1016/j.waojou.2024.100920},

issn = {1939-4551},

year  = {2024},

date = {2024-06-01},

urldate = {2024-06-01},

journal = {World Allergy Organ J},

volume = {17},

number = {6},

pages = {100920},

abstract = {BACKGROUND: Newborn screening (NBS) for the early detection of inborn errors of immunity (IEI) has been implemented in a few countries. The objective of this study was to verify the situation and define obstacles to the implementation of NBS worldwide.nnMETHODS: A questionnaire was developed by the Inborn Errors of Immunity Committee of the World Allergy Organization (WAO) with 17 questions regarding NBS for IEI in the physician's workplace, NBS test type, problems hindering NBS implementation, reimbursement for IEI therapy, presence of a national IEI registry, referral centers, molecular diagnosis, hematopoietic stem cell transplantation centers, gene therapy, and immunoglobulin replacement therapy. The survey was sent by email once a week to doctors and others associated with WAO and the main immunology societies worldwide as a Google Form™ to be completed during September and October 2021.nnRESULTS: Two hundred twenty-nine questionnaires were completed, of which 216 (94.3%) were completed by physicians. One hundred seventy-six (76.8%) physicians were both allergists and immunologists. The agreement between allergists/immunologists and non-allergists/non-immunologists for the question "Is there NBS for IEI in the country you work in?" was good ( = 0,64: 95% CI 0.55-0.69). Ninety-eight (42.8%) participants were from Latin America, 35 (15.3%) from North America, 29 (12.6%) from Europe, 18 (7.9%) from Africa, 44 (19.2%) from Asia, and 5 (2.2%) from Oceania. More than half the participants (n = 124, 54.2%) regularly treated patients with IEI, followed by occasional treatment (n = 77, 33.6%), or never (n = 28, 12.2%). Of the respondents, 14.8% reported that their countries performed NBS for IEI, whereas 42.2% reported their countries did not. T-cell receptor excision circles was the most widely used technique in some countries, with 75 (59.9%) for the diagnosis of NBS for IEI, followed by combined use with kappa deleting-recombination excision circles. Only 13 participants (10.3%) underwent neonatal exon screening in their respective countries. Financial and technical issues were among the major obstacles to the implementation of NBS for IEI.nnCONCLUSIONS: This pilot study showed that few countries have implemented NBS for IEI, despite the presence of immunology referral centers and the availability of hematopoietic stem cell transplantation and intravenous immunoglobulin replacement therapy. The findings highlight the difficulties, mainly financial and technical, hindering wide application of NBS. Sharing experiences, technologies, and resources at the international level can help overcome these difficulties.},

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

pubstate = {published},

tppubtype = {article}

}

@article{pmid37119982,

title = {Improving Access to Therapy for Patients With Inborn Errors of Immunity: A Call to Action},

author = {Morna J Dorsey and Antonio Condino-Neto},

doi = {10.1016/j.jaip.2023.04.019},

issn = {2213-2201},

year  = {2023},

date = {2023-06-01},

urldate = {2023-06-01},

journal = {J Allergy Clin Immunol Pract},

volume = {11},

number = {6},

pages = {1698--1702},

abstract = {Breakthroughs in sequencing technology, targeted immunotherapy, and immune reconstituting treatment have increased the pool of patients with inborn errors of immunity, requiring expertise from clinical immunologists. A growing category of immunodeficiency, presenting as primary immune regulatory disorder and secondary immunodeficiency due to targeted immune therapy for cancer and autoimmunity, has added to the growing burden of patients needing access to immune-supportive therapy. The confluence of a growing population of patients needing a clinical immunologist, complex payer structures, and inadequate health care representation will exacerbate current problems with access to therapy. Patients, health care providers, researchers, public and private payers, and industry must come together to find solutions to improve access to therapy. In this article, we reviewed the major topics regarding access to therapy for patients with immunodeficiency.},

keywords = {Erros Inatos da Imunidade},

pubstate = {published},

tppubtype = {article}

}

@article{pmid35503492,

title = {SCID and Other Inborn Errors of Immunity with Low TRECs - the Brazilian Experience},

author = {Lucila Akune Barreiros and Jusley Lira Sousa and Christoph Geier and Alexander Leiss-Piller and Marilia Pylles Patto Kanegae and Tábata Takahashi França and Bertrand Boisson and Alessandra Miramontes Lima and Beatriz Tavares Costa-Carvalho and Carolina Sanchez Aranda and Maria Isabel de Moraes-Pinto and Gesmar Rodrigues Silva Segundo and Janaira Fernandes Severo Ferreira and Fabíola Scancetti Tavares and Flávia Alice Timburiba de Medeiros Guimarães and Eliana Cristina Toledo and Ana Carolina da Matta Ain and Iramirton Figueirêdo Moreira and Gustavo Soldatelli and Anete Sevciovic Grumach and Mayra de Barros Dorna and Cristina Worm Weber and Regina Sumiko Watanabe Di Gesu and Vera Maria Dantas and Fátima Rodrigues Fernandes and Troy Robert Torgerson and Hans Dietrich Ochs and Jacinta Bustamante and Jolan Eszter Walter and Antonio Condino-Neto},

doi = {10.1007/s10875-022-01275-9},

issn = {1573-2592},

year  = {2022},

date = {2022-08-01},

urldate = {2022-08-01},

journal = {J Clin Immunol},

volume = {42},

number = {6},

pages = {1171--1192},

abstract = {Severe combined immunodeficiency, SCID, is a pediatric emergency that represents the most critical group of inborn errors of immunity (IEI). Affected infants present with early onset life-threatening infections due to absent or non-functional T cells. Without early diagnosis and curative treatment, most die in early infancy. As most affected infants appear healthy at birth, newborn screening (NBS) is essential to identify and treat patients before the onset of symptoms. Here, we report 47 Brazilian patients investigated between 2009 and 2020 for SCID due to either a positive family history and/or clinical impression and low TRECs. Based on clinical presentation, laboratory finding, and genetic information, 24 patients were diagnosed as typical SCID, 14 as leaky SCID, and 6 as Omenn syndrome; 2 patients had non-SCID IEI, and 1 remained undefined. Disease onset median age was 2 months, but at the time of diagnosis and treatment, median ages were 6.5 and 11.5 months, respectively, revealing considerable delay which affected negatively treatment success. While overall survival was 51.1%, only 66.7% (30/45) lived long enough to undergo hematopoietic stem-cell transplantation, which was successful in 70% of cases. Forty-three of 47 (91.5%) patients underwent genetic testing, with a 65.1% success rate. Even though our patients did not come from the NBS programs, the diagnosis of SCID improved in Brazil during the pilot programs, likely due to improved medical education. However, we estimate that at least 80% of SCID cases are still missed. NBS-SCID started to be universally implemented in the city of São Paulo in May 2021, and it is our hope that other cities will follow, leading to early diagnosis and higher survival of SCID patients in Brazil.},

keywords = {Erros Inatos da Imunidade, SCID, TRECs/KRECs},

pubstate = {published},

tppubtype = {article}

}

@article{pmid35783543,

title = {Allergic manifestations of inborn errors of immunity and their impact on the diagnosis: A worldwide study},

author = {Zeinab A El-Sayed and Dalia H El-Ghoneimy and José A Ortega-Martell and Nesrine Radwan and Juan C Aldave and Waleed Al-Herz and Maryam A Al-Nesf and Antonio Condino-Neto and Theresa Cole and Brian Eley and Nahla H H Erwa and Sara Espinosa-Padilla and Emilia Faria and Nelson A Rosario Filho and Ramsay Fuleihan and Nermeen Galal and Elizabeth Garabedian and Mary Hintermeyer and Kohsuke Imai and Carla Irani and Ebtihal Kamal and Nadia Kechout and Adam Klocperk and Michael Levin and Tomas Milota and Monia Ouederni and Roberto Paganelli and Claudio Pignata and Farah N Qamar and Isabella Quinti and Sonia Qureshi and Nita Radhakrishnan and Nima Rezaei and John Routes and Surjit Singh and Sangeetha Siniah and Intisar Abdel-Hakam Taha and Luciana K Tanno and Ben Van Dort and Alla Volokha and Kathleen Sullivan},

doi = {10.1016/j.waojou.2022.100657},

issn = {1939-4551},

year  = {2022},

date = {2022-06-01},

urldate = {2022-06-01},

journal = {World Allergy Organ J},

volume = {15},

number = {6},

pages = {100657},

abstract = {BACKGROUND: Allergies have long been observed in Inborn Errors of Immunity (IEI) and might even be the first presentation resulting in delayed diagnosis or misdiagnosis in some cases. However, data on the prevalence of allergic diseases among IEI patients are limited and contradictory.nnOBJECTIVE: To provide a worldwide view of allergic diseases, across a broad spectrum of IEI, and their impact on the timely diagnosis of IEI.nnMETHODS: This is a worldwide study, conceived by the World Allergy Organization (WAO) Inborn Errors of Immunity Committee. A questionnaire was developed and pilot-tested and was sent via email to collect data from 61 immunology centers known to treat pediatric and/or adult IEI patients in 41 countries. In addition, a query was submitted to The United States Immunodeficiency Network (USIDNET) at its website.nnRESULTS: Thirty centers in 23 countries caring for a total 8450 IEI patients responded. The USIDNET dataset included 2332 patients. Data from responders showed that a median (IQR) of 16.3% (10-28.8%) of patients experienced allergic diseases during the course of their IEI as follows: 3.6% (1.3-11.3%) had bronchial asthma, 3.6% (1.9-9.1%) atopic dermatitis, 3.0% (1.0-7.8%) allergic rhinitis, and 1.3% (0.5-3.3%) food allergy. As per the USIDNET data, the frequency of allergy among IEI patients was 68.8% (bronchial asthma in 46.9%). The percentage of IEI patients who presented initially with allergic disorders was 8% (5-25%) and diagnosis delay was reported in 7.5% (0.9-20.6%). Predominantly antibody deficiencies had the highest frequency of allergic disease followed by combined immunodeficiency with a frequency of 40.3% (19.2-62.5%) and 20.0% (10-32%) respectively. As per the data of centers, anaphylaxis occurred in 25/8450 patients (0.3%) whereas per USIDNET dataset, it occurred in 249/2332 (10.6%); drugs and food allergy were the main causes in both datasets.nnCONCLUSIONS: This multinational study brings to focus the relation between allergic diseases and IEI. Major allergies do occur in IEI patients but were less frequent than the general population. Initial presentation with allergy could adversely affect the timely diagnosis of IEI. There is a need for policies to raise awareness and educate primary care and other referring specialties on the association of allergic diseases with IEI. This study provides a network among centers for future prospective studies in the field.},

keywords = {alergias, Erros Inatos da Imunidade},

pubstate = {published},

tppubtype = {article}

}