Article
Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome.
The Journal of experimental medicine - 21 Sept 2015
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
Abstract excerpt
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-deficient patients from five families and four different ethnic groups. These patients were homozygous for one of five...
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