Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome

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 TYK2-defic...

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Publicado no:J Exp Med
Main Authors: Kreins, Alexandra Y., Ciancanelli, Michael J., Okada, Satoshi, Kong, Xiao-Fei, Ramírez-Alejo, Noé, Kilic, Sara Sebnem, El Baghdadi, Jamila, Nonoyama, Shigeaki, Mahdaviani, Seyed Alireza, Ailal, Fatima, Bousfiha, Aziz, Mansouri, Davood, Nievas, Elma, Ma, Cindy S., Rao, Geetha, Bernasconi, Andrea, Sun Kuehn, Hye, 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, Moncada-Velez, Marcela, Martinez-Barricarte, Ruben, Migaud, Melanie, Deswarte, Caroline, Alsina, Laia, Kotlarz, Daniel, Klein, Christoph, Muller-Fleckenstein, Ingrid, 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
Formato: Artigo
Idioma:Inglês
Publicado em: The Rockefeller University Press 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4577846/
https://ncbi.nlm.nih.gov/pubmed/26304966
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1084/jem.20140280
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