Výsledky vyhledávání - "Edgar Borges de Oliveira-Júnior"

Inherited GATA2 deficiency is dominant by haploinsufficiency and displays incomplete clinical penetrance

Autor: Rubén Martínez-Barricarte, Guillaume Vogt, Gabriela López-Herrera, Lidia Branco, Laurent Abel, Patricia Mariá O.Farrill Romanillos, Anna-Lena Neehus, Manon Roynard, Bengü Gerçeker, Júlia Vasconcelos, José Luis Franco Restrepo, Franck Rapaport, Sairaj Munavar Sajjath, Caroline Deswarte, Jean Donadieu, Christine Bellanné-Chantelot, Fatma Omur Ardeniz, Antoine Guérin, Antonio Condino-Neto, Noé Ramirez Alejo, A. S. Brunel, Caroline Thomas, Claire Lozano, Alexis Cuffel, Laura Berrón-Ruiz, Rebeca Pérez de Diego, Carmen Oleaga-Quintas, Kang Liu, Elise Launay, Mónica Martínez-Gallo, Vanesa Cunill Monjo, Marlène Pasquet, Laura Marques, D.B. Lew, Claire Fieschi, Fethi Mellouli, Tom Le Voyer, Carlos Rodríguez-Gallego, Luiz Fernando Job Jobim, Nora Hilda Segura Méndez, Eric Jeziorski, Yu Jerry Zhou, Andrés Augusto Arias, Stéphanie Boisson-Dupuis, Marie-Gabrielle Vigué, Anne Puel, Stéphane Marot, Aurélie Cobat, Kacy A Ramirez, Nuria Fernández-Hidalgo, Jacinta Bustamante, Jérémie Rosain, Lazaro Lorenzo-Diaz, Mariana Jobim, Regis A. Campos, Torsten Witte, Roger Colobran, Jean-Laurent Casanova, Marcela Moncada-Vélez, Edgar Borges de Oliveira-Júnior

Publikováno v: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
J Clin Immunol

Purpose Germline heterozygous mutations of GATA2 underlie a variety of hematological and clinical phenotypes. The genetic, immunological, and clinical features of GATA2-deficient patients with mycobacterial diseases in the familial context remain lar

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e27d66a78f1534c469b9b65a10f9e44

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Clinical and Genotypic Spectrum of Chronic Granulomatous Disease in 71 Latin American Patients: First Report from the LASID Registry

Publikováno v: Pediatric Blood & Cancer. 62:2101-2107

(59.4%), granulomata (49.3%), skin infections (42%), chronic diarrhea (41.9%), otitis (29%), sepsis (23.2%), abscesses (21.7%), recurrent urinary tract infection (20.3%), and osteomyelitis (15.9%). Adverse reactions to bacillus Calmette-Gu� (BCG) v

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a1307e555ac3b2cd7ad6c271710876b9
https://doi.org/10.1002/pbc.25674

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BAY 41-2272, a soluble guanylate cyclase agonist, activates human mononuclear phagocytes

Autor: Christina Arslanian Kubo, Otavio Cabral Marques, Edgar Borges de Oliveira-Júnior, Antonio Condino-Neto, Edson Antunes, P. V. Soeiro-Pereira, Angela Falcai

Publikováno v: British Journal of Pharmacology. 166:1617-1630

BACKGROUND AND PURPOSE Phagocyte function is critical for host defense against infections. Defects in phagocytic function lead to several primary immunodeficiencies characterized by early onset of recurrent and severe infections. In this work, we fur

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ce6727b5be29f60118522bd77ddd8320
https://doi.org/10.1111/j.1476-5381.2011.01764.x

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Doença granulomatosa crônica: diagnóstico no primeiro episódio infeccioso Chronic granulomatous disease: diagnosis on the first infection episode

Autor: Luís Roberto C. M. Bonilha, Geraldo Roberto Cogo, Antonio Condino Neto, Edgar Borges de Oliveira Júnior, José Vicente B. de Pieri, César Carvalho Tonello, Lourdes Josefina R. Cogo, João Luiz D. Martins, Luís Alberto Verri

Publikováno v: Revista Paulista de Pediatria, Vol 28, Iss 3, Pp 362-366 (2010)

OBJETIVO: Relatar caso ilustrativo de doença granulomatosa crônica cujo diagnóstico ocorreu durante o aparecimento do primeiro episódio infeccioso, colaborando com a iniciativa do Brazilian Group for Immunodeficiency para a sensibilização do pe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doajarticles::b800d8adbac9bf9c895e839fb16830e7
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0103-05822010000300016

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Dissertation/ Thesis

Uma nova abordagem para o estudo dos defeitos genético-moleculares da doença granulomatosa crônica e análise de suas relações genótipo-fenótipo.

Autor: Edgar Borges de Oliveira Júnior

Publikováno v: Biblioteca Digital de Teses e Dissertações da USPUniversidade de São PauloUSP.

A Doença Granulomatosa Crônica é uma imunodeficiência grave e rara, na qual os quadros infecciosos por bactérias e fungos, ocorrem predominantemente nas barreiras naturais do organismo. O defeito reside em mutações em um dos componentes do sis

Externí odkaz: http://www.teses.usp.br/teses/disponiveis/42/42133/tde-16122010-101612/

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Effects of BAY 41-2272, an activator of nitric oxide-independent site of soluble guanylate cyclase, on human NADPH oxidase system from THP-1 cells

Autor: Edson Antunes, Edgar Borges de Oliveira-Júnior, Sara M. Thomazzi, Jussara Rehder, Antonio Condino-Neto

Publikováno v: European journal of pharmacology. 567(1-2)

We investigated the effects of the 5-cyclopropyl-2-[1-(2-fluoro-benzyl)-1 H -pyrazolo[3,4- b ] pyridin-3-yl]-pyrimidin-4-ylamine (BAY 41-2272) on the NADPH oxidase activity, gp91 phox gene expression, cyclic guanosine-3′,5′-monophosphate (cGMP) a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::441337ec760b387d8bfe4858b5937f89
https://pubmed.ncbi.nlm.nih.gov/17499238

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