Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Ekaterini Simões Goudouris"'
Autor:
Cristina Santos Ferreira, Ronaldo da Silva Francisco Junior, Alexandra Lehmkuhl Gerber, Ana Paula de Campos Guimarães, Flavia Amendola Anisio de Carvalho, Bárbara Carvalho Santos dos Reis, Fernanda Pinto-Mariz, Monica Soares de Souza, Zilton Farias Meira de Vasconcelos, Ekaterini Simões Goudouris, Ana Tereza Ribeiro Vasconcelos
Publikováno v:
BMC Genomic Data, Vol 24, Iss 1, Pp 1-14 (2023)
Abstract Background Inherited genetic defects in immune system-related genes can result in Inborn Errors of Immunity (IEI), also known as Primary Immunodeficiencies (PID). Diagnosis of IEI disorders is challenging due to overlapping clinical manifest
Externí odkaz:
https://doaj.org/article/c74b95eb53824632bec8a49da9b6080e
Autor:
Cristina Santos Ferreira, Ronaldo da Silva Francisco Junior, Alexandra Lehmkuhl Gerber, Ana Paula de Campos Guimarães, Flávia Anisio Amendola, Fernanda Pinto-Mariz, Monica Soares de Souza, Patrícia Carvalho Batista Miranda, Zilton Farias Meira de Vasconcelos, Ekaterini Simões Goudouris, Ana Tereza Ribeiro Vasconcelos
Publikováno v:
BMC Genomic Data, Vol 24, Iss 1, Pp 1-5 (2023)
Abstract Objectives Inborn error of immunity (IEI) comprises a broad group of inherited immunological disorders that usually display an overlap in many clinical manifestations challenging their diagnosis. The identification of disease-causing variant
Externí odkaz:
https://doaj.org/article/fdb6561e78134b778f66e63032ce6d4e
Autor:
Ronaldo da Silva Francisco Junior, Guilherme Loss de Morais, Joseane Biso de Carvalho, Cristina dos Santos Ferreira, Alexandra Lehmkuhl Gerber, Ana Paula de C Guimarães, Flávia Anisio Amendola, Fernanda Pinto-Mariz, Zilton Farias Meira de Vasconcelos, Ekaterini Simões Goudouris, Ana Tereza Ribeiro de Vasconcelos
Publikováno v:
BMC Pediatrics, Vol 22, Iss 1, Pp 1-5 (2022)
Abstract Background X-linked agammaglobulinemia (XLA) is an Inborn Errors of Immunity (IEI) characterized by pan-hypogammaglobulinemia and low numbers of B lymphocytes due to mutations in BTK gene. Usually, XLA patients are not susceptible to respira
Externí odkaz:
https://doaj.org/article/e303b09fe71d48cfb4d2b1d34c0b19a9
Publikováno v:
Jornal de Pediatria (Versão em Português), Vol 95, Iss , Pp 49-58 (2019)
Objectives: This study aimed to review the literature on the repercussions of the different inborn errors of immunity on growth, drawing attention to the diagnosis of this group of diseases in patients with growth disorders, as well as to enable the
Externí odkaz:
https://doaj.org/article/93d660954ac446c39838dde03dd9530e
Autor:
Ekaterini Simões Goudouris
Publikováno v:
Jornal de Pediatria, Vol 97, Iss , Pp S24-S33 (2021)
Objectives: Classical immunodeficiencies are mainly characterized by infectious conditions. In recent years, manifestations related to allergy, inflammation, autoimmunity, lymphoproliferation, and malignancies related to this group of diseases have b
Externí odkaz:
https://doaj.org/article/7021759daa2c4f9bb57c32a5ce728948
Publikováno v:
Jornal de Pediatria, Vol 97, Iss , Pp S84-S90 (2021)
Objectives: Inborn Errors of Immunity are characterized by infectious conditions and manifestations of immune dysregulation. The diversity of clinical phenotypes can make it difficult to direct the laboratory investigation. This article aims to updat
Externí odkaz:
https://doaj.org/article/21f2f1246ad64440be8fe185d5d7be96
Autor:
Ekaterini Simões Goudouris, Almerinda Maria do Rego Silva, Aluce Loureiro Ouricuri, Anete Sevciovic Grumach, Antonio Condino-Neto, Beatriz Tavares Costa-Carvalho, Carolina Cardoso de Mello Prando, Cristina Maria Kokron, Dewton de Moraes Vasconcelos, Fabíola Scancetti Tavares, Gesmar Rodrigues Silva Segundo, Irma Cecília Douglas Paes Barreto, Mayra de Barros Dorna, Myrthes Anna Maragna Toledo Barros, Wilma Carvalho Neves Forte
Publikováno v:
Einstein (São Paulo), Vol 15, Iss 1, Pp 1-16
ABSTRACT In the last few years, new primary immunodeficiencies and genetic defects have been described. Recently, immunoglobulin products with improved compositions and for subcutaneous use have become available in Brazil. In order to guide physician
Externí odkaz:
https://doaj.org/article/72ef3ad65acc4a958ad5a9e7703c0ec2
Publikováno v:
Revista Brasileira de Educação Médica, Vol 37, Iss 3, Pp 396-407
O ensino médico vem enfrentando desafios para modificar suas práticas pedagógicas e estrutura curricular. As tecnologias de informação e comunicação (TICs) podem auxiliar no enfrentamento de muitos desses desafios. Tendo em vista esse cenário
Externí odkaz:
https://doaj.org/article/b0bc742679d54758b05fb60afecc83a1
Autor:
Ekaterini Simões Goudouris, Almerinda Maria do Rego Silva, Aluce Loureiro Ouricuri, Anete Sevciovic Grumach, Antonio Condino-Neto, Beatriz Tavares Costa-Carvalho, Carolina Cardoso de Mello Prando, Cristina Maria Kokron, Dewton de Moraes Vasconcelos, Fabíola Scancetti Tavares, Gesmar Rodrigues Silva Segundo, Irma Cecília Douglas Paes Barreto, Mayra de Barros Dorna, Myrthes Anna Maragna Toledo Barros, Wilma Carvalho Neves Forte
Publikováno v:
Einstein (São Paulo), Vol 15, Iss 4, Pp 522-522
Externí odkaz:
https://doaj.org/article/046eb36d5b38476eb860ef181348421f
Autor:
Solange Oliveira Rodrigues Valle, Maria Luiza Oliva Alonso, Sérgio Duarte Dortas Junior, Ekaterini Simões Goudouris, Ana Luiza Ribeiro Bard de Carvalho, Albertina Varandas Capelo, Eli Mansour, Ana Flávia Bernardes, Luiz Fernando Bacarini Leite, Pedro Giavina-Bianchi, Marcelo Vivolo Aun, Mariana Paes Leme Ferriani, Luisa Karla Arruda, Anete Sevciovic Grumach
Publikováno v:
International Archives of Allergy and Immunology. 183:572-577
Background: Acquired deficiency of C1 inhibitor (AAE-C1-INH) is a very rare cause of recurrent angioedema, with few cases reported in the literature. We aimed to describe a series of patients with AAE-C1-INH who were diagnosed and received care at an