Open AccessInherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance
Author(s) -
Carmen Oleaga-Quintas,
Edgar Borges de Oliveira-Júnior,
Jérémie Rosain,
Franck Rapaport,
Caroline Deswarte,
Antoine Guérin,
Sairaj Munavar Sajjath,
Yu Zhou,
Stéphane Marot,
Claire Lozano,
Lídia Branco,
Núria Fernández-Hidalgo,
D. Betty Lew,
Anne-Sophie Brunel,
Caroline Thomas,
Élise Launay,
Andrés A. Arias,
Alexis Cuffel,
Vanesa Cunill Monjo,
Anna-Leeehus,
Laura Marqués,
Ma Roynard,
Marcela Moncada-Vélez,
Bengü Gerçeker,
Roger Colobran,
M.G. Vigué,
Gabriela LópezHerrera,
Laura Berrón-Ruíz,
Nora Hilda Segura Méndez,
Patricia O’Farrill Romanillos,
Tom Le Voyer,
Anne Puel,
Christine BellannéChantelot,
Kacy A. Ramirez,
Lazaro Lorenzo,
Noé Ramirez Alejo,
Rebeca Pérez de Diego,
Antônio CondinoNeto,
Fethi Mellouli,
Carlos RodríguezGallego,
Torsten Witte,
José Luis Franco,
Mariana Jobim,
Stéphanie BoissonDupuis,
Éric Jeziorski,
Claire Fieschi,
Guillaume Vogt,
Jean Donadieu,
Marlène Pasquet,
Júlia Vasconcelos,
F. Ömür Ardeniz,
Mónica Martínez-Gallo,
Régis A. Campos,
Luiz Fernando Job Jobim,
Rubén Martı́nez-Barricarte,
Kang Liu,
Aurélie Cobat,
Laurent Abel,
JeanLaurent Casanova,
Jacinta Bustamante
Publication year - 2021
Publication title -
journal of clinical immunology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.739
H-Index - 96
eISSN - 1573-2592
pISSN - 0271-9142
DOI - 10.1007/s10875-020-00930-3
Subject(s) - penetrance , haploinsufficiency , primary immunodeficiency , genetics , biology , bronchiectasis , germline mutation , medicine , immunology , mutation , phenotype , gene , immune system , lung
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.