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Refinado por: assunto: Imunologia remover assunto: Mutação Genética remover
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1
Flow cytometry contributions for the diagnosis and immunopathological characterization of primary immunodeficiency diseases with immune dysregulation
Flow cytometry contributions for the diagnosis and immunopathological characterization of primary immunodeficiency diseases with immune dysregulation
Material Type:
Artigo 		Adicionar ao Meu Espaço

Flow cytometry contributions for the diagnosis and immunopathological characterization of primary immunodeficiency diseases with immune dysregulation

Otavio Cabral Marques Lena Friederike Schimke; Edgar Borges de Oliveira Junior; Nadia El Khawanky; Rodrigo Nalio Ramos; Basel K Al-Ramadi; Gesmar Rodrigues Silva Segundo; Hans D Ochs; Antonio Condino Neto

Frontiers in Immunology Lausanne v.10, art. 2742, 23 p., 2019

Lausanne 2019

Localização: ICB - Inst. Ciências Biomédicas    (PC ICB BMI SEP 2019 )(Acessar)

2
The extended understanding of chronic granulomatous disease
The extended understanding of chronic granulomatous disease
Material Type:
Artigo 		Adicionar ao Meu Espaço

The extended understanding of chronic granulomatous disease

Raíssa Lacerda Pontes Lillian Nunes Gomes; Rafael Sales de Albuquerque; Paulo Vitor Soeiro Pereira; Antonio Condino Neto

Current Opinion in Pediatrics Philadelphia v. 31, n. 6, p. 869-873, 2019

Philadelphia 2019

Item não circula. Consulte sua biblioteca.(Acessar)

3
Towards clinical application of a lentiviral gene therapy protocol for p47phox deficient chronic granulomatous disease
Towards clinical application of a lentiviral gene therapy protocol for p47phox deficient chronic granulomatous disease
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Towards clinical application of a lentiviral gene therapy protocol for p47phox deficient chronic granulomatous disease

A. Schejtman Schejtman, Alexandre Walmir Cutrim Aragão Filho Aragão-Filho, W. C.; Simon Clare; M Weisser; Marta Zinicola; S Burns; D Thomas; A. J Thrasher; Cláudio Santilli; European Society of Gene & Cell Therapy (ESGCT); International Society for Stem Cell Research (ISSCR); French Society of Gene and Cell Therapy (SFTCG); Conference of Changing the Face of Modern Medicine: Stem Cell and Gene Therapy (2018 Lausanne, Switzerland)

Human Gene Therapy New Rochelle v. 29, n. 12, p. A27-A27, res. OR020, 2018

New Rochelle Mary Ann Liebert, Inc. Publishers 2018

Item não circula. Consulte sua biblioteca.(Acessar)

4
Severe combined immunodeficiency diagnosis and genetic defects
Severe combined immunodeficiency diagnosis and genetic defects
Material Type:
Artigo 		Adicionar ao Meu Espaço

Severe combined immunodeficiency diagnosis and genetic defects

Carolina Sanchez Aranda Mariana Pimentel Gouveia Pereira; Celso Jose Mendanha da Silva; Maria Candida Faria Varanda Rizzo; Edson Kiyotaka Ishizuka; Edgar Borges de Oliveira; Antonio Condino Neto

Immunological Reviews Hoboken, NJ v. 322, n. 1, p. 138-147, 2024

Hoboken, NJ Wiley-Blackwell Publishing, Inc. 2024

Item não circula. Consulte sua biblioteca.(Acessar)

5
Lentiviral gene therapy rescues p47phox chronic granulomatous disease and the ability to fight Salmonella infection in mice
Lentiviral gene therapy rescues p47phox chronic granulomatous disease and the ability to fight Salmonella infection in mice
Material Type:
Artigo 		Adicionar ao Meu Espaço

Lentiviral gene therapy rescues p47phox chronic granulomatous disease and the ability to fight Salmonella infection in mice

Andrea Schejtman Walmir Cutrim Aragão Filho; Simon Clare; Marta Zinicola; Maren Weisser; Siobhan O Burns; Claire Booth; Hubert B Gaspar; David C Thomas; Antonio Condino Neto; Adrian J Thrasher; Giorgia Santilli

Gene Therapy London v. 27, p. 459–469, 2020

London 2020

Item não circula. Consulte sua biblioteca.(Acessar)

6
Inherited GATA2 deficiency is dominant by haploinsufficiency and displays incomplete clinical penetrance
Inherited GATA2 deficiency is dominant by haploinsufficiency and displays incomplete clinical penetrance
Material Type:
Artigo 		Adicionar ao Meu Espaço

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

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

Journal of Clinical Immunology New York 19 p., 2021

New York 2021

Item não circula. Consulte sua biblioteca.(Acessar)

7
Hematologically important mutations X-linked chronic granulomatous disease (fourth update)
Hematologically important mutations X-linked chronic granulomatous disease (fourth update)
Material Type:
Artigo 		Adicionar ao Meu Espaço

Hematologically important mutations X-linked chronic granulomatous disease (fourth update)

Dirk Roos Karin van Leeuwen; Amy P Hsu; Debra Long Priel; Amber Begtrup; Rhonda Brandon; Marie José Stasia; Faris Ghalib Bakri; Nezihe Köker; Mustafa Yavuz Köker; Manisha Madkaika; Martin de Boer; Maria Bravo Garcia Morato; Juan Luis Valdivieso Shephard; Joachim Roesler; Hirokazu Kanegane; Toshinao Kawai; Gigliola Di Matteo; Mohammad Shahrooei; Jacinta Bustamante; Amit Rawat; Pandiarajan Vignesh; Esmaeil Mortaz; Abbas Fayezi; Deniz Cagdas; Ilhan Tezcan; Maleewan Kitcharoensakkul; Mary C Dinauer; Isabelle Meyts; Baruch Wolach; Antonio Condino Neto; Christa S Zerbe; Steven M Holland; Harry L Malech; John I Gallin; Douglas B Kuhns

Blood Cells, Molecules and Diseases Maryland Heights v. 90, art. 102587, p. 1-36, 2021

Maryland Heights 2021

Item não circula. Consulte sua biblioteca.(Acessar)

8
Hematologically important mutations the autosomal forms of chronic granulomatous disease (third update)
Hematologically important mutations the autosomal forms of chronic granulomatous disease (third update)
Material Type:
Artigo 		Adicionar ao Meu Espaço

Hematologically important mutations the autosomal forms of chronic granulomatous disease (third update)

Dirk Roos Karin van Leeuwen; Amy P Hsu; Debra Long Priel; Amber Begtrup; Rhonda Brandon; Amit Rawat; Pandiarajan Vignesh; Manesha Madkaikar; Marie José Stasia; Faris Ghalib Bakri; Martin de Boer; Joachim Roesler; Nezihe Köker; Mustafa Yavuz Köker; Marianne Jakobsen Jakobsen, Marianne Antonius; Jacinta Bustamante; Maria Bravo Garcia Morato; Antonio Condino Neto

Blood Cells, Molecules and Diseases Maryland Heights v. 92, art. 102596, p. 1-16, 2021

Maryland Heights 2021

Item não circula. Consulte sua biblioteca.(Acessar)

9
CD40 ligand deficiency in Latin America clinical, immunological, and genetic characteristics
CD40 ligand deficiency in Latin America clinical, immunological, and genetic characteristics
Material Type:
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CD40 ligand deficiency in Latin America clinical, immunological, and genetic characteristics

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; Antonio Condino Neto

Journal of Clinical Immunology New York p. 1-13, 2022

New York 2022

Item não circula. Consulte sua biblioteca.(Acessar)

10
Autosomal recessive IL-12p40 deficiency due to a mutation in the IL12B gene report of a Brazilian patient with lymph node mycobacterial infection
Autosomal recessive IL-12p40 deficiency due to a mutation in the IL12B gene report of a Brazilian patient with lymph node mycobacterial infection
Material Type:
Artigo 		Adicionar ao Meu Espaço

Autosomal recessive IL-12p40 deficiency due to a mutation in the IL12B gene report of a Brazilian patient with lymph node mycobacterial infection

Karina Mescouto de Melo Fabíola Scancetti Tavares; Thales Silva Antunes; Gesmar Rodrigues Silva Segundo; Antônio Carlos Tanajura de Macedo; Alexandre Paz Ferreira; Cláudia França Cavalcante Valente; Antonio Condino Neto

Pediatric Allergy, Immunology, and Pulmonology New Rochelle, NY v. 37, n. 1, p. 33-36, 2024

New Rochelle, NY Mary Ann Liebert, Inc. Publishers 2024

Item não circula. Consulte sua biblioteca.(Acessar)

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