Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance
Makaleler > Tam Makale · 2021
Yazarlar: Carmen Oleaga-Quintas, Edgar Borges de Oliveira-Junior, Jeremie Rosain, Franck Rapaport, Caroline Deswarte, Antoine Guerin, Sairaj Munavar Sajjath, Yu Jerry Zhou, Stephane Marot, Claire Lozano, Lidia Branco, Nuria Fernandez-Hidalgo, Dukhee Betty Lew, Anne-Sophie Brunel, Caroline Thomas, Elise Launay, Andres Augusto Arias, Alexis Cuffel, Vanesa Cunill Monjo, Anna-Lena Neehus, Laura Marques, Manon Roynard, Marcela Moncada-Velez, BENGÜ GERÇEKER TÜRK, Roger Colobran, Marie-Gabrielle Vigue, Gabriela Lopez-Herrera, Laura Berron-Ruiz, Nora Hilda Segura Mendez, Patricia O'Farrill Romanillos, Tom Le Voyer, Anne Puel, Christine Bellanne-Chantelot, Kacy A. Ramirez, Lazaro Lorenzo-Diaz, Noe Ramirez Alejo, Rebeca Perez de Diego, Antonio Condino-Neto, Fethi Mellouli, Carlos Rodriguez-Gallego, Torsten Witte, Jose Franco Restrepo, Mariana Jobim, Stephanie Boisson-Dupuis, Eric Jeziorski, Claire Fieschi, Guillaume Vogt, Jean Donadieu, Marlene Pasquet, Julia Vasconcelos, Fatma Ömür ARDENİZ, Monica Martinez-Gallo, Regis A. Campos, Luiz Fernando Jobim, Ruben Martinez-Barricarte, Kang Liu, Aurelie Cobat, Laurent Abel, Jean-Laurent Casanova, Jacinta Bustamante
JOURNAL OF CLINICAL IMMUNOLOGY, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2021, cilt 41, ss 639-657
DOI: 10.1007/s10875-020-00930-3
Özet
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.