Ligase-4 deficiency causes distinctive immune abnormalities in asymptomatic individuals

Por Felgentreff, Kerstin, Baxi, Sachin N., Lee, Yu Nee, Dobbs, Kerry, Henderson, Lauren A., Csomos, Krisztian, Tsitsikov, Erdyni N., Armanios, Mary, Walter, Jolan E., Notarangelo, Luigi D.
Publicado no J Clin Immunol (2016)

The Role of Induced Pluripotent Stem Cells in Research and Therapy of Primary Immunodeficiencies

Por Weinacht, Katja G., Brauer, Patrick M., Felgentreff, Kerstin, Devine, Alex, Gennery, Andrew R., Giliani, Silvia, Al-Herz, Waleed, Schambach, Axel, Zúñiga-Pflücker, Juan Carlos, Notarangelo, Luigi D.
Publicado em 2012

Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency

Por Felgentreff, Kerstin, Lee, Yu Nee, Frugoni, Francesco, Du, Likun, van der Burg, Mirjam, Giliani, Silvia, Tezcan, Ilhan, Reisli, Ismail, Mejstrikova, E, Villartay, JP, Sleckman, Barry P, Manis, John, Notarangelo, Luigi D
Publicado no J Allergy Clin Immunol (2015)

A Novel Mutation in the POLE2 Gene Causing Combined Immunodeficiency

Por Frugoni, Francesco, Dobbs, Kerry, Felgentreff, Kerstin, Aldhekri, Hasan, Al Saud, Bandar K, Arnaout, Rand, Ali, Afshan Ashraf, Abhyankar, Avinash, Alroqi, Fayhan, Giliani, Silvia, Ojeda, Mayra Martinez, Tsitsikov, Erdyni, Pai, Sung-Yun, Casanova, Jean Laurent, Notarangelo, Luigi D., Manis, John P
Publicado no J Allergy Clin Immunol (2015)

Differential role of nonhomologous end joining factors in the generation, DNA damage response, and myeloid differentiation of human induced pluripotent stem cells

Por Felgentreff, Kerstin, Du, Likun, Weinacht, Katja G., Dobbs, Kerry, Bartish, Margarita, Giliani, Silvia, Schlaeger, Thorsten, DeVine, Alexander, Schambach, Axel, Woodbine, Lisa J., Davies, Graham, Baxi, Sachin N., van der Burg, Mirjam, Bleesing, Jack, Gennery, Andrew, Manis, John, Pan-Hammarström, Qiang, Notarangelo, Luigi D.
Publicado em 2014

Reticular dysgenesis–associated AK2 protects hematopoietic stem and progenitor cell development from oxidative stress

Por Rissone, Alberto, Weinacht, Katja Gabriele, la Marca, Giancarlo, Bishop, Kevin, Giocaliere, Elisa, Jagadeesh, Jayashree, Felgentreff, Kerstin, Dobbs, Kerry, Al-Herz, Waleed, Jones, Marypat, Chandrasekharappa, Settara, Kirby, Martha, Wincovitch, Stephen, Simon, Karen Lyn, Itan, Yuval, DeVine, Alex, Schlaeger, Thorsten, Schambach, Axel, Sood, Raman, Notarangelo, Luigi D., Candotti, Fabio
Publicado no J Exp Med (2015)

Modeling altered T-cell development with induced pluripotent stem cells from patients with RAG1-dependent immune deficiencies

Por Brauer, Patrick M., Pessach, Itai M., Clarke, Erik, Rowe, Jared H., Ott de Bruin, Lisa, Lee, Yu Nee, Dominguez-Brauer, Carmen, Comeau, Anne M., Awong, Geneve, Felgentreff, Kerstin, Zhang, Yuhang H., Bredemeyer, Andrea, Al-Herz, Waleed, Du, Likun, Ververs, Francesca, Kennedy, Marion, Giliani, Silvia, Keller, Gordon, Sleckman, Barry P., Schatz, David G., Bushman, Frederic D., Notarangelo, Luigi D., Zúñiga-Pflücker, Juan Carlos
Publicado no Blood (2016)

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

Por 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.
Publicado no J Exp Med (2017)

DOCK2 and a Recessive Immunodeficiency with Early-Onset Invasive Infections

Por Dobbs, Kerry, Domínguez Conde, Cecilia, Zhang, Shen-Ying, Parolini, Silvia, Audry, Magali, Chou, Janet, Haapaniemi, Emma, Keles, Sevgi, Bilic, Ivan, Okada, Satoshi, Massaad, Michel J., Rounioja, Samuli, Alwahadneh, Adel M., Serwas, Nina K., Capuder, Kelly, Ciftci, Ergin, Felgentreff, Kerstin, Ohsumi, Toshiro K., Pedergnana, Vincent, Boisson, Bertrand, Haskoloğlu, Sule, Ensari, Arzu, Schuster, Michael, Moretta, Alessandro, Itan, Yuval, Patrizi, Ornella, Rozenberg, Flore, Lebon, Pierre, Saarela, Janna, Knip, Mikael, Petrovski, Slavé, Goldstein, David B., Parrott, Roberta E., Savas, Berna, Schambach, Axel, Tabellini, Giovanna, Bock, Christoph, Chatila, Talal, Comeau, Anne Marie, Geha, Raif S., Abel, Laurent, Buckley, Rebecca H., Ikincioğullari, Aydan, Al-Herz, Waleed, Helminen, Merja, Doğu, Figen, Casanova, Jean-Laurent, Boztuğ, Kaan, Notarangelo, Luigi D.
Publicado no N Engl J Med (2015)