Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance

ABSTRACT: 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 G...

Full description

Autores:

Moncada Vélez, Marcela
Arias Sierra, Andrés Augusto
Franco Restrepo, José Luis
Oleaga Quintas, Carmen
Borges de Oliveira Júnior, Edgar
Rosain, Jérémie
Rapaport, Franck
Deswarte, Caroline
Guérin, Antoine
Munavar Sajjath, Sairaj
Zhou, Yu Jerry
Marot, Stéphane
Lozano, Claire
Branco, Lidia
Fernández Hidalgo, Nuria
Lew Dukhee, Betty
Brunel, Anne Sophie
Launay, Elise
Thomas, Caroline
Cuffel, Alexis
Cunill Monjo, Vanesa
Neehus, Anna Lena
Marques, Laura
Roynard, Manon
Gerçeker, Bengü
Colobran, Roger
Vigué, Marie Gabrielle
López Herrera, Gabriela
Berron Ruiz, Laura
Segura Méndez, Nora Hilda
O'Farrill Romanillos, Patricia
Le Voyer, Tom
Puel, Anne
Bellanné Chantelot, Christine
Ramirez, Kacy A
Lorenzo Díaz, Lazaro
Ramirez Alejo, Noé
Pérez de Diego, Rebeca
Condino Neto, Antonio
Mellouli, Fethi
Rodríguez Gallego, Carlos
Witte, Torsten
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

Tipo de recurso:

Article of investigation

Fecha de publicación:

2021

Institución:

Universidad de Antioquia

Repositorio:

Repositorio UdeA

Idioma:

eng

OAI Identifier:

oai:bibliotecadigital.udea.edu.co:10495/40495

Acceso en línea:

https://hdl.handle.net/10495/40495

Palabra clave:

Alleles
Alelos
DNA Mutational Analysis
Análisis Mutacional de ADN
Databases, Genetic
Bases de Datos Genéticas
Exome Sequencing
Secuenciación del Exoma
GATA2 Deficiency
Deficiencia GATA2
Genes, Dominant
Genes Dominantes
Genetic Association Studies
Estudios de Asociación Genética
Genetic Predisposition to Disease
Predisposición Genética a la Enfermedad
Genotype
Genotipo
Germ-Line Mutation
Mutación de Línea Germinal
Haploinsufficiency
Haploinsuficiencia
Hematologic Diseases
Enfermedades Hematológicas
Kaplan-Meier Estimate
Estimación de Kaplan-Meier
Mycobacterium Infections
Infecciones por Mycobacterium
Outcome Assessment, Health Care
Evaluación de Resultado en la Atención de Salud
Penetrance
Penetrancia
Phenotype
Fenotipo
https://id.nlm.nih.gov/mesh/D010641
https://id.nlm.nih.gov/mesh/D000483
https://id.nlm.nih.gov/mesh/D004252
https://id.nlm.nih.gov/mesh/D030541
https://id.nlm.nih.gov/mesh/D000073359
https://id.nlm.nih.gov/mesh/D000077428
https://id.nlm.nih.gov/mesh/D005799
https://id.nlm.nih.gov/mesh/D056726
https://id.nlm.nih.gov/mesh/D020022
https://id.nlm.nih.gov/mesh/D005838
https://id.nlm.nih.gov/mesh/D018095
https://id.nlm.nih.gov/mesh/D057895
https://id.nlm.nih.gov/mesh/D006402
https://id.nlm.nih.gov/mesh/D053208
https://id.nlm.nih.gov/mesh/D009164
https://id.nlm.nih.gov/mesh/D017063
https://id.nlm.nih.gov/mesh/D019683

Rights

openAccess

License

http://creativecommons.org/licenses/by/2.5/co/