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 acesso aberto
- Este artigo NÃO é de acesso aberto
-
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: 26 fev. 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 fev. 26 ] 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 fev. 26 ] Available from: https://doi.org/10.1007/s10875-020-00930-3 - Infecção por Blastomicose em pacientes com Hiper IgM ligada ao X (HIGM1)
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Informações sobre o DOI: 10.1007/s10875-020-00930-3 (Fonte: oaDOI API)
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