Inherited GATA2 deficiency is dominant by haploinsufficiency and displays incomplete clinical penetrance (2021)
- Authors:
- Quintas, Carmen Oleaga
- Oliveira Júnior, Edgar Borges de
- Rosain, Jérémie
- Rapaport, Franck
- Deswarte, Caroline
- Guérin, Antoine
- Sajjath, Sairaj Munavar
- Zhou, Yu Jerry
- Marot, Stéphane
- Lozano, Claire
- Branco, Lidia
- Hidalgo, Nuria Fernández
- Lew, Dukhee Betty
- Brunel, Anne Sophiehttps
- Thomas, Caroline
- Launay, Elise
- Arias, Andrés Augusto
- Cuffel, Alexis
- Monjo, Vanesa Cunill
- Neehus, Anna-Lena
- Marques, Laura
- Roynard, Manon
- Vélez, Marcela Moncada
- Gerçeker, Bengü
- Colobran, Roger
- Vigué, Marie-Gabrielle
- Herrera, Gabriela Lopez
- Ruiz, Laura Berron
- Méndez, Nora Hilda Segura
- Romanillos, Patricia O’Farrill
- Voyer, Tom Le
- Puel, Anne
- Chantelot, Christine Bellanné
- Ramirez, Kacy A.
- Diaz, Lazaro Lorenzo
- Alejo, Noé Ramirez
- Diego, Rebeca Pérez de
- Condino Neto, Antonio
- Mellouli, Fethi
- Gallego, Carlos Rodriguez
- Witte, Torsten
- Restrepo, José Franco
- Jobim, Mariana
- Dupuis, Stéphanie Boisson
- Jeziorski, Eric
- Fieschi, Claire
- Vogt, Guillaume
- Donadieu, Jean
- Pasquet, Marlène
- Vasconcelos, Julia
- Ardeniz, Fatma Omur
- Gallo, Mónica Martínez
- Campos, Regis A.
- Jobim, Luiz Fernando
- Barricarte, Rubén Martínez
- Liu, Kang
- Cobat, Aurélie
- Abel, Laurent
- Casanova, Jean-Laurent
- Bustamante, Jacinta
- Quintas, Carmen Oleaga
- Autor USP: CONDINO NETO, ANTONIO - ICB
- Unidade: ICB
- DOI: 10.1007/s10875-020-00930-3
- Subjects: IMUNOLOGIA; IMUNODEFICIÊNCIA DE VARIÁVEL COMUM; TUBERCULOSE; INTERLEUCINA 8; POLIMORFISMO; ALELOS; IMUNOGENÉTICA; MUTAÇÃO GENÉTICA; FENÓTIPOS
- Agências de fomento:
- Financiado pela INSERM, University of Paris
- Financiado pela Rockefeller University
- Financiado pela Giles Foundation
- Financiado pela NIAID
- Financiado pela NIH
- Financiado pela ANR
- Financiado pela Imagine Institute
- Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
Processo FAPESP: 2012/51094-2 - Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
- Financiado pela Instituto de Salud Carlos III/ERDF
- Financiado pela ECOS-NORD/COLCIENCIAS/MEN/ICETEX
- Financiado pela Olarte Foundation PID/COLCIENCIAS
- Language: Inglês
- Imprenta:
- Source:
- Título: Journal of Clinical Immunology
- ISSN: 1573-2592
- Volume/Número/Paginação/Ano: 19 p., 2021
- Este periódico é de assinatura
- Este artigo é de acesso aberto
- URL de acesso aberto
- Cor do Acesso Aberto: green
-
ABNT
QUINTAS, Carmen Oleaga et al. Inherited GATA2 deficiency is dominant by haploinsufficiency and displays incomplete clinical penetrance. Journal of Clinical Immunology, p. 19 , 2021Tradução . . Disponível em: https://doi.org/10.1007/s10875-020-00930-3. Acesso em: 04 jan. 2026. -
APA
Quintas, C. O., Oliveira Júnior, E. B. de, Rosain, J., Rapaport, F., Deswarte, C., Guérin, A., et al. (2021). Inherited GATA2 deficiency is dominant by haploinsufficiency and displays incomplete clinical penetrance. Journal of Clinical Immunology, 19 . doi:10.1007/s10875-020-00930-3 -
NLM
Quintas CO, Oliveira Júnior EB de, Rosain J, Rapaport F, Deswarte C, Guérin A, Sajjath SM, Zhou YJ, Marot S, Lozano C, Branco L, Hidalgo NF, Lew DB, Brunel AS, Thomas C, Launay E, Arias AA, Cuffel A, Monjo VC, Neehus A-L, Marques L, Roynard M, Vélez MM, Gerçeker B, Colobran R, Vigué M-G, Herrera GL, Ruiz LB, Méndez NHS, Romanillos PO’F, Voyer TL, Puel A, Chantelot CB, Ramirez KA, Diaz LL, Alejo NR, Diego RP de, Condino Neto A, Mellouli F, Gallego CR, Witte T, Restrepo JF, Jobim M, Dupuis SB, Jeziorski E, Fieschi C, Vogt G, Donadieu J, Pasquet M, Vasconcelos J, Ardeniz FO, Gallo MM, Campos RA, Jobim LF, Barricarte RM, Liu K, Cobat A, Abel L, Casanova J-L, Bustamante J. Inherited GATA2 deficiency is dominant by haploinsufficiency and displays incomplete clinical penetrance [Internet]. Journal of Clinical Immunology. 2021 ;19 .[citado 2026 jan. 04 ] Available from: https://doi.org/10.1007/s10875-020-00930-3 -
Vancouver
Quintas CO, Oliveira Júnior EB de, Rosain J, Rapaport F, Deswarte C, Guérin A, Sajjath SM, Zhou YJ, Marot S, Lozano C, Branco L, Hidalgo NF, Lew DB, Brunel AS, Thomas C, Launay E, Arias AA, Cuffel A, Monjo VC, Neehus A-L, Marques L, Roynard M, Vélez MM, Gerçeker B, Colobran R, Vigué M-G, Herrera GL, Ruiz LB, Méndez NHS, Romanillos PO’F, Voyer TL, Puel A, Chantelot CB, Ramirez KA, Diaz LL, Alejo NR, Diego RP de, Condino Neto A, Mellouli F, Gallego CR, Witte T, Restrepo JF, Jobim M, Dupuis SB, Jeziorski E, Fieschi C, Vogt G, Donadieu J, Pasquet M, Vasconcelos J, Ardeniz FO, Gallo MM, Campos RA, Jobim LF, Barricarte RM, Liu K, Cobat A, Abel L, Casanova J-L, Bustamante J. Inherited GATA2 deficiency is dominant by haploinsufficiency and displays incomplete clinical penetrance [Internet]. Journal of Clinical Immunology. 2021 ;19 .[citado 2026 jan. 04 ] Available from: https://doi.org/10.1007/s10875-020-00930-3 - Anhidrotic ectodermal dysplasia and T cell immunodeficiency
- BAY 41-2272 aumenta a atividade microbicida in vitro de leucócitos mononucleares humanos
- The role of nuclear factor kappa B (NF-kB) on the NCF1 gene expression
- Essential role of nuclear factor-kappa B for NADPH oxidase activity in normal and anhidrotic ectodermal dysplasia leukocytes
- Essential role of nuclear factor-kappa B for NADPH oxidase activity, CYBB and NCF-1 gene expression in normal and anhidrotic ectodermal dysplasia leukocytes
- An unusual case of a female patient presenting with recurrent infections due to mycobacteria, viruses, and pyogenic bacteria and defective TLRs response
- Brain abscess as first clinical manifestation of hypogammaglobulinemia
- Essential role of Nuclear Factor kappa B (NF-jB) on NCFL gene expression in normal, anhidrotic ectodermal dysplasia, and chronic granulomatous disease leukocytes
- Molecular genetic analysis of Brazilian patients with CD40L deficiency
- The online latin american registry of primary immunodeficiencies
Informações sobre o DOI: 10.1007/s10875-020-00930-3 (Fonte: oaDOI API)
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
