Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

ABSTRACT: Background: Primary immunodeficiency diseases (PIDDs) are clinically and genetically heterogeneous disorders thus far associated with mutations in more than 300 genes. The clinical phenotypes derived from distinct genotypes can overlap. Genetic etiology can be a prognostic indicator of dis...

Full description

Autores:

Franco Restrepo, José Luis
Trujillo Vargas, Claudia Milena
Aldave Becerra, Juan Carlos
Espinosa Rosales, Francisco J.
Pedroza, Luis Alberto
Caldirola, Maria Soledad
Lugo Reyes, Saul Oswaldo
Guerrero-Cursaru, Nina Denisse
Cancrini, Caterina
Hjorth-Hansen, Henrik

Tipo de recurso:

Article of investigation

Fecha de publicación:

2017

Institución:

Universidad de Antioquia

Repositorio:

Repositorio UdeA

Idioma:

eng

OAI Identifier:

oai:bibliotecadigital.udea.edu.co:10495/43122

Acceso en línea:

https://hdl.handle.net/10495/43122

Palabra clave:

DNA Copy Number Variations
Variaciones en el Número de Copia de ADN
Genomics
Genómica
High-Throughput Nucleotide Sequencing
Secuenciación de Nucleótidos de Alto Rendimiento
Immunologic Deficiency Syndromes
Síndromes de Inmunodeficiencia
https://id.nlm.nih.gov/mesh/D056915
https://id.nlm.nih.gov/mesh/D023281
https://id.nlm.nih.gov/mesh/D059014
https://id.nlm.nih.gov/mesh/D007153

Rights

openAccess

License

http://creativecommons.org/licenses/by-nc-nd/2.5/co/