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

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

doi:10.1084/jem.20140280

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

Published in The Journal of Experimental Medicine • Aug 24, 2015

Authors:

Alexandra Y. Kreins

Michael J. Ciancanelli

Satoshi Okada

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 TYK2-defic...

Subject

Immunology

Chronic mucocutaneous candidiasis

Biology

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