Article
Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance.
Journal of clinical immunology - 1 Apr 2021
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 Jacinta
Abstract excerpt
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 largely unknown. METHODS: We enrolled 15 GATA2 index cases referred for mycobacterial disease. We describe their genetic and clinical features including their...
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