EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay

di Volpi, Stefano, Yamazaki, Yasuhiro, Brauer, Patrick M., van Rooijen, Ellen, Hayashida, Atsuko, Slavotinek, Anne, Sun Kuehn, Hye, Di Rocco, Maja, Rivolta, Carlo, Bortolomai, Ileana, Du, Likun, Felgentreff, Kerstin, Ott de Bruin, Lisa, Hayashida, Kazutaka, Freedman, George, Marcovecchio, Genni Enza, Capuder, Kelly, Rath, Prisni, Luche, Nicole, Hagedorn, Elliott J., Buoncompagni, Antonella, Royer-Bertrand, Beryl, Giliani, Silvia, Poliani, Pietro Luigi, Imberti, Luisa, Dobbs, Kerry, Poulain, Fabienne E., Martini, Alberto, Manis, John, Linhardt, Robert J., Bosticardo, Marita, Rosenzweig, Sergio Damian, Lee, Hane, Puck, Jennifer M., Zúñiga-Pflücker, Juan Carlos, Zon, Leonard, Park, Pyong Woo, Superti-Furga, Andrea, Notarangelo, Luigi D.
Pubblicato in J Exp Med (2017)

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

di 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
Pubblicato in J Exp Med (2015)