Human TYK2 Deficiency: Mycobacterial and Viral Infections without Hyper-IgE Syndrome

ABSTRACT: Autosomal recessive, complete TYK2 deficiency was previously described in a patient (P1) with intracellular bacterial and viral infections and features of hyper-IgE syndrome (HIES), including atopic dermatitis, high serum IgE levels, and staphylococcal abscesses. We identified seven other...

Full description

Autores:

Moncada Vélez, Marcela
Kreins, Alexandra Yema
Ciancanelli, Michael
Okada, Satoshi
Kong, Xiao-Fei
Ramírez Alejo, Noé
Sebnem Kilic, Sara
El Baghdadi, Jamila
Nonoyama, Shigeaki
Mahdaviani, Seyed Alireza
Ailal, Fatima
Bousfiha, Aziz
Mansouri, Davood
Nievas, Elma
Ma, Cindy S.
Rao, Geetha
Bernasconi, Andrea
Kuehn, Hye Sun
Niemela, Julie
Stoddard, Jennifer
Deveau, Paul
Cobat, Aurelie
El Azbaoui, Safa
Sabri, Ayoub
Lim, Che Kang
Sundin, Mikael
Avery, Danielle T.
Halwani, Rabih
Grant, Audrey V.
Boisson, Bertrand
Bogunovic, Dusan
Itan, Yuval
Martínez Barricarte, Rubén
Migaud, Melanie
Deswarte, Caroline
Alsina, Laia
Kotlarz, Daniel
Klein, Christoph
Fleckenstein, Ingrid Muller
Fleckenstein, Bernhard
Cormier Daire, Valerie
Rose John, Stefan
Picard, Capucine
Hammarstrom, Lennart
Puel, Anne
Al Muhsen, Saleh
Abel, Laurent
Chaussabel, Damien
Rosenzweig, Sergio D.
Minegishi, Yoshiyuki
Tangye, Stuart G.
Bustamante, Jacinta
Casanova, Jean Laurent
Boisson Dupuis, Stéphanie

Tipo de recurso:

Article of investigation

Fecha de publicación:

2015

Institución:

Universidad de Antioquia

Repositorio:

Repositorio UdeA

Idioma:

eng

OAI Identifier:

oai:bibliotecadigital.udea.edu.co:10495/35110

Acceso en línea:

https://hdl.handle.net/10495/35110

Palabra clave:

TYK2 Kinase
TYK2 Quinasa
Bacterial Infections
Infecciones Bacterianas
Job Syndrome
Síndrome de Job
Immunoglobulin E
Inmunoglobulina E
Loss of Function Mutation
Mutación con Pérdida de Función

Rights

openAccess

License

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