Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance
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Published:2021-01-08
Issue:3
Volume:41
Page:639-657
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ISSN:0271-9142
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Container-title:Journal of Clinical Immunology
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language:en
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Short-container-title:J Clin Immunol
Author:
Oleaga-Quintas Carmen, de Oliveira-Júnior Edgar Borges, Rosain Jérémie, Rapaport Franck, Deswarte Caroline, Guérin Antoine, Sajjath Sairaj Munavar, Zhou Yu Jerry, Marot Stéphane, Lozano Claire, Branco Lidia, Fernández-Hidalgo Nuria, Lew Dukhee Betty, Brunel Anne-Sophie, Thomas Caroline, Launay Elise, Arias Andrés Augusto, Cuffel Alexis, Monjo Vanesa Cunill, Neehus Anna-Lena, Marques Laura, Roynard Manon, Moncada-Vélez Marcela, Gerçeker Bengü, Colobran Roger, Vigué Marie-Gabrielle, Lopez-Herrera Gabriela, Berron-Ruiz Laura, Méndez Nora Hilda Segura, O’Farrill Romanillos Patricia, Le Voyer Tom, Puel Anne, Bellanné-Chantelot Christine, Ramirez Kacy A., Lorenzo-Diaz Lazaro, Alejo Noé Ramirez, de Diego Rebeca Pérez, Condino-Neto Antonio, Mellouli Fethi, Rodriguez-Gallego Carlos, Witte Torsten, Restrepo José Franco, Jobim Mariana, Boisson-Dupuis Stéphanie, Jeziorski Eric, Fieschi Claire, Vogt Guillaume, Donadieu Jean, Pasquet Marlène, Vasconcelos Julia, Ardeniz Fatma Omur, Martínez-Gallo Mónica, Campos Regis A., Jobim Luiz Fernando, Martínez-Barricarte Rubén, Liu Kang, Cobat Aurélie, Abel Laurent, Casanova Jean-Laurent, Bustamante JacintaORCID
Funder
ANR-GENMSMD ECOS-NORD ANR-IFNGPHOX National Institutes of Health ANR-HGDIFD
Publisher
Springer Science and Business Media LLC
Subject
Immunology,Immunology and Allergy
Reference78 articles.
1. Collin M, Dickinson R, Bigley V. Haematopoietic and immune defects associated with GATA2 mutation. Br J Haematol. 2015;169(2):173–87. 2. Wlodarski MW, Collin M, Horwitz MS. GATA2 deficiency and related myeloid neoplasms. Semin Hematol. 2017;54(2):81–6. 3. Bigley V, Haniffa M, Doulatov S, Wang XN, Dickinson R, McGovern N, et al. The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency. J Exp Med. 2011;208(2):227–34. 4. Hsu AP, Sampaio EP, Khan J, Calvo KR, Lemieux JE, Patel SY, et al. Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome. Blood. 2011;118(10):2653–5. 5. Hyde RK, Liu PP. GATA2 mutations lead to MDS and AML. Nat Genet. 2011;43(10):926–7.
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