Genetic dissection of inborn errors of immunity in Colombian patients with severe infectious diseases: lessons from patients with single to multiples infections

ABSTRACT: INTRODUCTION: Human genetics of infectious diseases propose that monogenic inborn errors of immunity (IEI) underlying resistance or susceptibility to specific infections. Life-threatening infectious diseases in otherwise healthy children, adolescents, and even young adults have been attrib...

Full description

Autores:

Arango Franco, Carlos Andrés

Tipo de recurso:

Doctoral thesis

Fecha de publicación:

2023

Institución:

Universidad de Antioquia

Repositorio:

Repositorio UdeA

Idioma:

eng

OAI Identifier:

oai:bibliotecadigital.udea.edu.co:10495/35826

Acceso en línea:

https://hdl.handle.net/10495/35826

Palabra clave:

Enfermedad granulomatosa crónica
Granulomatous disease, chronic
Autoanticuerpos
Autoantibodies
Infecciones fúngicas invasoras
Invasive fungal infections
Inmunodeficiencia combinada grave
Severe combined immunodeficiency
Secuenciación del exoma
Exome sequencing
https://id.nlm.nih.gov/mesh/D006105
https://id.nlm.nih.gov/mesh/D001323
https://id.nlm.nih.gov/mesh/D000072742
https://id.nlm.nih.gov/mesh/D016511
https://id.nlm.nih.gov/mesh/D000073359

Rights

embargoedAccess

License

https://creativecommons.org/licenses/by-nc-sa/4.0/