Dr. Antonio Condino-Neto

@article{pmid35670811,

title = {Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency},

author = {Tessa Mollie Campbell and Zhiyong Liu and Qian Zhang and Marcela Moncada-Velez and Laura E Covill and Peng Zhang and Ilad Alavi Darazam and Paul Bastard and Lucy Bizien and Giorgia Bucciol and Sara Lind Enoksson and Emmanuelle Jouanguy and Şemsi Nur Karabela and Taushif Khan and Yasemin Kendir-Demirkol and Andres Augusto Arias and Davood Mansouri and Per Marits and Nico Marr and Isabelle Migeotte and Leen Moens and Tayfun Ozcelik and Isabelle Pellier and Anton Sendel and Sevtap Şenoğlu, and Mohammad Shahrooei and C I Edvard Smith and Isabelle Vandernoot and Karen Willekens and Kadriye Kart Yaşar and  and Peter Bergman and Laurent Abel and Aurélie Cobat and Jean-Laurent Casanova and Isabelle Meyts and Yenan T Bryceson},

doi = {10.1084/jem.20220202},

issn = {1540-9538},

year  = {2022},

date = {2022-07-01},

journal = {J Exp Med},

volume = {219},

number = {7},

abstract = {Autosomal recessive IRF7 deficiency was previously reported in three patients with single critical influenza or COVID-19 pneumonia episodes. The patients' fibroblasts and plasmacytoid dendritic cells produced no detectable type I and III IFNs, except IFN-β. Having discovered four new patients, we describe the genetic, immunological, and clinical features of seven IRF7-deficient patients from six families and five ancestries. Five were homozygous and two were compound heterozygous for IRF7 variants. Patients typically had one episode of pulmonary viral disease. Age at onset was surprisingly broad, from 6 mo to 50 yr (mean age 29 yr). The respiratory viruses implicated included SARS-CoV-2, influenza virus, respiratory syncytial virus, and adenovirus. Serological analyses indicated previous infections with many common viruses. Cellular analyses revealed strong antiviral immunity and expanded populations of influenza- and SARS-CoV-2-specific memory CD4+ and CD8+ T cells. IRF7-deficient individuals are prone to viral infections of the respiratory tract but are otherwise healthy, potentially due to residual IFN-β and compensatory adaptive immunity.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid35783543b,

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},

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 = {},

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}

}

@article{pmid33401995b,

title = {The First Iranian Cohort of Pediatric Patients with Activated Phosphoinositide 3-Kinase-δ (PI3Kδ) Syndrome (APDS)},

author = {Saba Fekrvand and Samaneh Delavari and Zahra Chavoshzadeh and Roya Sherkat and Seyed Alireza Mahdaviani and Mahnaz Sadeghi Shabestari and Gholamreza Azizi and Mohammad Taghi Arzanian and Bibi Shahin Shamsian and Shabnam Eskandarzadeh and Narges Eslami and William Rae and Antonio Condino-Neto and Javad Mohammadi and Hassan Abolhassani and Reza Yazdani and Asghar Aghamohammadi},

doi = {10.1080/08820139.2020.1863982},

issn = {1532-4311},

year  = {2022},

date = {2022-04-01},

journal = {Immunol Invest},

volume = {51},

number = {3},

pages = {644--659},

abstract = {BACKGROUND: Activated phosphoinositide 3-kinase δ syndrome (APDS) is a recently defined combined primary immunodeficiency disease (PID) characterized by recurrent respiratory tract infections, lymphoproliferation, autoimmunity and lymphoma. Gain-of-function mutations in  and loss-of-function of  genes lead to APDS1 and APDS2, respectively.nnMETHODS: Demographic, clinical, immunological and genetic data were collected from medical records of 15 pediatric patients, who were genetically identified using the whole-exome sequencing method.nnRESULTS: Fifteen patients (6 APDS1 and 9 APDS2) were enrolled in this study. Recurrent respiratory tract infections followed by lymphoproliferation and autoimmunity were the most common manifestations (86.7%, 53.3% and 26.7%, respectively). Five patients (33.3%) had a Hyper-IgM-syndrome-like immunoglobulin profile. In the APDS1 group, splice site and missense mutations were found in half of the patients and the C-lobe domain of  was the most affected region (50%). In the APDS2 group, splice site mutation was the most frequent mutation (77.8%) and the inter-SH2 domain was the most affected region of  (66.7%). Mortality rate was significantly higher in APDS2 group ( = .02) mainly due to chronic lung infections.nnCONCLUSION: Respiratory tract infections and humoral immunodeficiency are commonly the most important complication in pediatric APDS patients, and they can be fatal by ultimately causing catastrophic damage to the structure of lungs. Hence, physicians should be aware of its significance and further work-up of patients with recurrent respiratory tract infections especially in patients with lymphoproliferation. Moreover, delineation of genotype-phenotype associations with disease severity could be helpful in the timely application of appropriate management and patients' survival.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid34022333b,

title = {A simplified alternative diagnostic algorithm for SARS-CoV-2 suspected symptomatic patients and confirmed close contacts (asymptomatic): A consensus of Latin American experts},

author = {Fabian F Fay and Carlos Arturo Alvarez-Moreno and Pablo E Bonvehi and Carolina Cucho Espinoza and Marco Luis Herrera Hidalgo and Marcel Marcano-Lozada and Carlos M Perez and Alvaro Pulchinelli and Klever Vinicio Sáenz-Flor and Antonio Condino-Neto},

doi = {10.1016/j.ijid.2021.05.011},

issn = {1878-3511},

year  = {2022},

date = {2022-04-01},

journal = {Int J Infect Dis},

volume = {117},

pages = {130--136},

abstract = {INTRODUCTION: Latin America accounts for one-quarter of global COVID-19 cases and one-third of deaths. Inequalities in the region lead to barriers to the best use of diagnostic tests during the pandemic. There is a need for simplified guidelines that consider the region's limited health resources, international guidelines, medical literature, and local expertise.nnMETHODS: Using a modified Delphi method, 9 experts from Latin American countries developed a simplified algorithm for COVID-19 diagnosis on the basis of their answers to 24 questions related to diagnostic settings, and discussion of the literature and their experiences.nnRESULTS: The algorithm considers 3 timeframes (≤7 days, 8-13 days, and ≥14 days) and presents diagnostic options for each. SARS-CoV-2 real- time reverse transcription-polymerase chain reaction is the test of choice from day 1 to 14 after symptom onset or close contact, although antigen testing may be used in specific circumstances, from day 5 to 7. Antibody assays may be used for confirmation, usually after day 14; however, if clinical suspicion is very high, but other tests are negative, these assays may be used as an adjunct to decision-making from day 8 to 13.nnCONCLUSION: The proposed algorithm aims to support COVID-19 diagnosis decision-making in Latin America.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid34982304b,

title = {CD40 Ligand Deficiency in Latin America: Clinical, Immunological, and Genetic Characteristics},

author = {Tábata Takahashi França and Lucila Akune Barreiros and Ranieri Coelho Salgado and Sarah Maria da Silva Napoleão and Lillian Nunes Gomes and Janáira Fernandes Severo Ferreira and Carolina Prando and Cristina Worm Weber and Regina Sumiko Watanabe Di Gesu and Cecilia Montenegro and Carolina Sanchez Aranda and Gisele Kuntze and Aidé Tamara Staines-Boone and Edna Venegas-Montoya and Juan Carlos Aldave Becerra and Liliana Bezrodnik and Daniela Di Giovanni and Ileana Moreira and Gisela Analia Seminario and Andrea Cecilia Gómez Raccio and Mayra de Barros Dorna and Nelson Augusto Rosário-Filho and Herberto Jose Chong-Neto and Elisa de Carvalho and Milena Baptistella Grotta and Julio Cesar Orellana and Miguel Garcia Dominguez and Oscar Porras and Laura Sasia and Karina Salvucci and Emilio Garip and Luiz Fernando Bacarini Leite and Wilma Carvalho Neves Forte and Fernanda Pinto-Mariz and Ekaterini Goudouris and María Enriqueta Nuñez Nuñez and Magdalena Schelotto and Laura Berrón Ruiz and Diana Inés Liberatore and Hans D Ochs and Otavio Cabral-Marques and Antonio Condino-Neto},

doi = {10.1007/s10875-021-01182-5},

issn = {1573-2592},

year  = {2022},

date = {2022-04-01},

journal = {J Clin Immunol},

volume = {42},

number = {3},

pages = {514--526},

abstract = {CD40 ligand (CD40L) deficiency is a rare inborn error of immunity presenting with heterogeneous clinical manifestations. While a detailed characterization of patients affected by CD40L deficiency is essential to an accurate diagnosis and management, information about this disorder in Latin American patients is limited. We retrospectively analyzed data from 50 patients collected by the Latin American Society for Immunodeficiencies registry or provided by affiliated physicians to characterize the clinical, laboratory, and molecular features of Latin American patients with CD40L deficiency. The median age at disease onset and diagnosis was 7 months and 17 months, respectively, with a median diagnosis delay of 1 year. Forty-seven patients were genetically characterized revealing 6 novel mutations in the CD40LG gene. Pneumonia was the most common first symptom reported (66%). Initial immunoglobulin levels were variable among patients. Pneumonia (86%), upper respiratory tract infections (70%), neutropenia (70%), and gastrointestinal manifestations (60%) were the most prevalent clinical symptoms throughout life. Thirty-five infectious agents were reported, five of which were not previously described in CD40L deficient patients, representing the largest number of pathogens reported to date in a cohort of CD40L deficient patients. The characterization of the largest cohort of Latin American patients with CD40L deficiency adds novel insights to the recognition of this disorder, helping to fulfill unmet needs and gaps in the diagnosis and management of patients with CD40L deficiency.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid33401995,

title = {The First Iranian Cohort of Pediatric Patients with Activated Phosphoinositide 3-Kinase-δ (PI3Kδ) Syndrome (APDS)},

author = {Saba Fekrvand and Samaneh Delavari and Zahra Chavoshzadeh and Roya Sherkat and Seyed Alireza Mahdaviani and Mahnaz Sadeghi Shabestari and Gholamreza Azizi and Mohammad Taghi Arzanian and Bibi Shahin Shamsian and Shabnam Eskandarzadeh and Narges Eslami and William Rae and Antonio Condino-Neto and Javad Mohammadi and Hassan Abolhassani and Reza Yazdani and Asghar Aghamohammadi},

doi = {10.1080/08820139.2020.1863982},

issn = {1532-4311},

year  = {2022},

date = {2022-04-01},

urldate = {2022-04-01},

journal = {Immunol Invest},

volume = {51},

number = {3},

pages = {644--659},

abstract = {BACKGROUND: Activated phosphoinositide 3-kinase δ syndrome (APDS) is a recently defined combined primary immunodeficiency disease (PID) characterized by recurrent respiratory tract infections, lymphoproliferation, autoimmunity and lymphoma. Gain-of-function mutations in  and loss-of-function of  genes lead to APDS1 and APDS2, respectively.nnMETHODS: Demographic, clinical, immunological and genetic data were collected from medical records of 15 pediatric patients, who were genetically identified using the whole-exome sequencing method.nnRESULTS: Fifteen patients (6 APDS1 and 9 APDS2) were enrolled in this study. Recurrent respiratory tract infections followed by lymphoproliferation and autoimmunity were the most common manifestations (86.7%, 53.3% and 26.7%, respectively). Five patients (33.3%) had a Hyper-IgM-syndrome-like immunoglobulin profile. In the APDS1 group, splice site and missense mutations were found in half of the patients and the C-lobe domain of  was the most affected region (50%). In the APDS2 group, splice site mutation was the most frequent mutation (77.8%) and the inter-SH2 domain was the most affected region of  (66.7%). Mortality rate was significantly higher in APDS2 group ( = .02) mainly due to chronic lung infections.nnCONCLUSION: Respiratory tract infections and humoral immunodeficiency are commonly the most important complication in pediatric APDS patients, and they can be fatal by ultimately causing catastrophic damage to the structure of lungs. Hence, physicians should be aware of its significance and further work-up of patients with recurrent respiratory tract infections especially in patients with lymphoproliferation. Moreover, delineation of genotype-phenotype associations with disease severity could be helpful in the timely application of appropriate management and patients' survival.},

keywords = {imunidade},

pubstate = {published},

tppubtype = {article}

}