A Nonsense N -Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency

ABSTRACT: The noncanonical NF-κB pathway is implicated in diverse biological and immunological processes. Monoallelic C-terminus loss-of-function and gain-of-function mutations of NFKB2 have been recently identified as a cause of immunodeficiency manifesting with common variable immunodeficiency (CV...

Full description

Autores:

Franco Restrepo, José Luis
Franco Gallego, William Alexander
Arango Franco, Carlos Andrés
Peláez Sánchez, Ronald Guillermo
Kuehn, Hye Sun
Bernasconi, Andrea
Niemela, Julie E.
Almejun, María Belén
Goel, Shubham
Stoddard, Jennifer L.
Oleastro, Matías
Grunebaum, Eyal
Ballas, Zuhair
Cunningham Rundles, Charlotte
Fleisher, Thomas A.
Danielian, Silvia
Rosenzweig, Sergio D.

Tipo de recurso:

Article of investigation

Fecha de publicación:

2020

Institución:

Universidad de Antioquia

Repositorio:

Repositorio UdeA

Idioma:

eng

OAI Identifier:

oai:bibliotecadigital.udea.edu.co:10495/40260

Acceso en línea:

https://hdl.handle.net/10495/40260

Palabra clave:

Agammaglobulinemia
Agammaglobulinemia
Alleles
Alelos
Exome Sequencing
Secuenciación del Exoma
Genetic Association Studies
Estudios de Asociación Genética
Genetic Predisposition to Disease
Predisposición Genética a la Enfermedad
Genotype
Genotipo
Haploinsufficiency
Haploinsuficiencia
Subunidad p52 de NF-kappa B
NF-kappa B p52 Subunit
Linfocitos
Lymphocytes
Inmunofenotipificación
Immunophenotyping
https://id.nlm.nih.gov/mesh/D000483
https://id.nlm.nih.gov/mesh/D000361
https://id.nlm.nih.gov/mesh/D000073359
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/D052003
https://id.nlm.nih.gov/mesh/D008214
https://id.nlm.nih.gov/mesh/D016130

Rights

openAccess

License

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