Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Fernanda Pinto-Mariz"'
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
Autor:
Fernanda Pinto-Mariz
Publikováno v:
Jornal de Pediatria, Vol 97, Iss , Pp S34-S38 (2021)
Objectives: To draw physicians’ attention to the different warning signs of diseases of inborn errors of immunity. Data sources: A non-systematic review of the literature was carried out in the PubMed, LILACS, and SciELO databases, in addition to c
Externí odkaz:
https://doaj.org/article/dbe8868f263f4095bf4e6b1f4857a787
Autor:
Adriana C. Bonomo, Fernanda Pinto-Mariz, Ingo Riederer, Claudia F. Benjamim, Gillian Butler-Browne, Vincent Mouly, Wilson Savino
Publikováno v:
Frontiers in Physiology, Vol 11 (2020)
Growing evidence demonstrates a continuous interaction between the immune system and the skeletal muscle in inflammatory diseases of different pathogenetic origins, in dystrophic conditions such as Duchenne Muscular Dystrophy as well as during normal
Externí odkaz:
https://doaj.org/article/ba886281259842cc861967f05ec120e9
Autor:
Inès Barthélémy, Fernanda Pinto-Mariz, Erica Yada, Loïc Desquilbet, Wilson Savino, Suse Dayse Silva-Barbosa, Anne-Marie Faussat, Vincent Mouly, Thomas Voit, Stéphane Blot, Gillian Butler-Browne
Publikováno v:
Disease Models & Mechanisms, Vol 7, Iss 11, Pp 1253-1261 (2014)
In the translational process of developing innovative therapies for DMD (Duchenne muscular dystrophy), the last preclinical validation step is often carried out in the most relevant animal model of this human disease, namely the GRMD (Golden Retrieve
Externí odkaz:
https://doaj.org/article/cc076bbc3c5b4b219f19e3d012a8bf2e
Autor:
Tábata Takahashi França, Lucila Akune Barreiros, Ranieri Coelho Salgado, Sarah Maria da Silva Napoleão, Lillian Nunes Gomes, Janáira Fernandes Severo Ferreira, Carolina Prando, Cristina Worm Weber, Regina Sumiko Watanabe Di Gesu, Cecilia Montenegro, Carolina Sanchez Aranda, Gisele Kuntze, Aidé Tamara Staines-Boone, Edna Venegas-Montoya, Juan Carlos Aldave Becerra, Liliana Bezrodnik, Daniela Di Giovanni, Ileana Moreira, Gisela Analia Seminario, Andrea Cecilia Gómez Raccio, Mayra de Barros Dorna, Nelson Augusto Rosário-Filho, Herberto Jose Chong-Neto, Elisa de Carvalho, Milena Baptistella Grotta, Julio Cesar Orellana, Miguel Garcia Dominguez, Oscar Porras, Laura Sasia, Karina Salvucci, Emilio Garip, Luiz Fernando Bacarini Leite, Wilma Carvalho Neves Forte, Fernanda Pinto-Mariz, Ekaterini Goudouris, María Enriqueta Nuñez Nuñez, Magdalena Schelotto, Laura Berrón Ruiz, Diana Inés Liberatore, Hans D. Ochs, Otavio Cabral-Marques, Antonio Condino-Neto
Publikováno v:
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Universidade de São Paulo (USP)
instacron:USP
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,
Publikováno v:
Arquivos de Asmas Alergia e Imunologia. 6
Autor:
Priscila Feijó Klaes, Fernanda Pinto Mariz, Ekaterni Simões Goudouris, Jusley Lira Sousa, Lucila Akune Barreiros, Antonio Condino Neto
Publikováno v:
Rev Ped SOPERJ. 22
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. 22(1)
BackgroundX-linked agammaglobulinemia (XLA) is an Inborn Errors of Immunity (IEI) characterized by pan-hypogammaglobulinemia and low numbers of B lymphocytes due to mutations inBTKgene. Usually, XLA patients are not susceptible to respiratory tract i