Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee

ABSTRACT: We report the updated classification of inborn errors of immunity, compiled by the International Union of Immunological Societies Expert Committee. This report documents the key clinical and laboratory features of 55 novel monogenic gene defects, and 1 phenocopy due to autoantibodies, that...

Full description

Autores:

Franco Restrepo, José Luis
Tangye, Stuart
Al-Herz, Waleed
Bousfiha, Aziz
Chatila, Talal
Cunningham-Rundles, Charlotte
Etzioni, Amos
Holland, Steven
Klein, Christoph
Morio, Tomohiro
Ochs, Hans D
Oksenhendler, Eric
Picard, Capucine
Puck, Jennifer
Torgerson, Troy R
Casanova, Jean-Laurent
Sullivan, Kathleen E

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:10495/40261

Acceso en línea:

https://hdl.handle.net/10495/40261

Palabra clave:

Enfermedades de Inmunodeficiencia Primaria
Primary Immunodeficiency Diseases
Fenotipo
Phenotype
Enfermedades del Sistema Inmune
Immune System Diseases
https://id.nlm.nih.gov/mesh/D000081207
https://id.nlm.nih.gov/mesh/D010641
https://id.nlm.nih.gov/mesh/D007154

Rights

openAccess

License

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