Intrinsic Defects in B Cell Development and Differentiation, T Cell Exhaustion and Altered Unconventional T Cell Generation Characterize Human Adenosine Deaminase Type 2 Deficiency

por Yap, Jin Yan, Moens, Leen, Lin, Ming-Wei, Kane, Alisa, Kelleher, Anthony, Toong, Catherine, Wu, Kathy H.C., Sewell, William A., Phan, Tri Giang, Hollway, Georgina E., Enthoven, Karen, Gray, Paul E., Casas-Martin, Jose, Wouters, Carine, De Somer, Lien, Hershfield, Michael, Bucciol, Giorgia, Delafontaine, Selket, Ma, Cindy S., Tangye, Stuart G., Meyts, Isabelle
Publicado 2021

Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia

por Zhang, Qian, Matuozzo, Daniela, Le Pen, Jérémie, Lee, Danyel, Moens, Leen, Asano, Takaki, Bohlen, Jonathan, Liu, Zhiyong, Moncada-Velez, Marcela, Kendir-Demirkol, Yasemin, Jing, Huie, Bizien, Lucy, Marchal, Astrid, Abolhassani, Hassan, Delafontaine, Selket, Bucciol, Giorgia, Bayhan, Gulsum Ical, Keles, Sevgi, Kiykim, Ayca, Hancerli, Selda, Haerynck, Filomeen, Florkin, Benoit, Hatipoglu, Nevin, Ozcelik, Tayfun, Morelle, Guillaume, Zatz, Mayana, Ng, Lisa F.P., Lye, David Chien, Young, Barnaby Edward, Leo, Yee-Sin, Dalgard, Clifton L., Lifton, Richard P., Renia, Laurent, Meyts, Isabelle, Jouanguy, Emmanuelle, Hammarström, Lennart, Pan-Hammarström, Qiang, Boisson, Bertrand, Bastard, Paul, Su, Helen C., Boisson-Dupuis, Stéphanie, Abel, Laurent, Rice, Charles M., Zhang, Shen-Ying, Cobat, Aurélie, Casanova, Jean-Laurent
Publicado 2022

Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients

por Hashem, Hasan, Bucciol, Giorgia, Ozen, Seza, Unal, Sule, Bozkaya, Ikbal Ok, Akarsu, Nurten, Taskinen, Mervi, Koskenvuo, Minna, Saarela, Janna, Dimitrova, Dimana, Hickstein, Dennis D., Hsu, Amy P., Holland, Steven M., Krance, Robert, Sasa, Ghadir, Kumar, Ashish R., Müller, Ingo, de Sousa, Monica Abreu, Delafontaine, Selket, Moens, Leen, Babor, Florian, Barzaghi, Federica, Cicalese, Maria Pia, Bredius, Robbert, van Montfrans, Joris, Baretta, Valentina, Cesaro, Simone, Stepensky, Polina, Benedicte, Neven, Moshous, Despina, Le Guenno, Guillaume, Boutboul, David, Dalal, Jignesh, Brooks, Joel P., Dokmeci, Elif, Dara, Jasmeen, Lucas, Carrie L., Hambleton, Sophie, Wilson, Keith, Jolles, Stephen, Koc, Yener, Güngör, Tayfun, Schnider, Caroline, Candotti, Fabio, Steinmann, Sandra, Schulz, Ansgar, Chambers, Chip, Hershfield, Michael, Ombrello, Amanda, Kanakry, Jennifer A., Meyts, Isabelle
Publicado 2021

Correction to: Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients

por Hashem, Hasan, Bucciol, Giorgia, Ozen, Seza, Unal, Sule, Bozkaya, Ikbal Ok, Akarsu, Nurten, Taskinen, Mervi, Koskenvuo, Minna, Saarela, Janna, Dimitrova, Dimana, Hickstein, Dennis D., Hsu, Amy P., Holland, Steven M., Krance, Robert, Sasa, Ghadir, Kumar, Ashish R., Müller, Ingo, de Sousa, Monica Abreu, Delafontaine, Selket, Moens, Leen, Babor, Florian, Barzaghi, Federica, Cicalese, Maria Pia, Bredius, Robbert, van Montfrans, Joris, Baretta, Valentina, Cesaro, Simone, Stepensky, Polina, Benedicte, Neven, Moshous, Despina, Le Guenno, Guillaume, Boutboul, David, Dalal, Jignesh, Brooks, Joel P., Dokmeci, Elif, Dara, Jasmeen, Lucas, Carrie L., Hambleton, Sophie, Wilson, Keith, Jolles, Stephen, Koc, Yener, Güngör, Tayfun, Schnider, Caroline, Candotti, Fabio, Steinmann, Sandra, Schulz, Ansgar, Chambers, Chip, Hershfield, Michael, Ombrello, Amanda, Kanakry, Jennifer A., Meyts, Isabelle
Publicado 2022

Inborn errors of OAS–RNase L in SARS-CoV-2–related multisystem inflammatory syndrome in children

por Lee, Danyel, Pen, Jérémie Le, Yatim, Ahmad, Dong, Beihua, Aquino, Yann, Ogishi, Masato, Pescarmona, Rémi, Talouarn, Estelle, Rinchai, Darawan, Zhang, Peng, Perret, Magali, Liu, Zhiyong, Jordan, Iolanda, Bozdemir, Sefika Elmas, Bayhan, Gulsum Iclal, Beaufils, Camille, Bizien, Lucy, Bisiaux, Aurelie, Lei, Weite, Hasan, Milena, Chen, Jie, Gaughan, Christina, Asthana, Abhishek, Libri, Valentina, Luna, Joseph M., Jaffré, Fabrice, Hoffmann, H.-Heinrich, Michailidis, Eleftherios, Moreews, Marion, Seeleuthner, Yoann, Bilguvar, Kaya, Mane, Shrikant, Flores, Carlos, Zhang, Yu, Arias, Andrés A., Bailey, Rasheed, Schlüter, Agatha, Milisavljevic, Baptiste, Bigio, Benedetta, Voyer, Tom Le, Materna, Marie, Gervais, Adrian, Moncada-Velez, Marcela, Pala, Francesca, Lazarov, Tomi, Levy, Romain, Neehus, Anna-Lena, Rosain, Jérémie, Peel, Jessica, Chan, Yi-Hao, Morin, Marie-Paule, Pino-Ramirez, Rosa Maria, Belkaya, Serkan, Lorenzo, Lazaro, Anton, Jordi, Delafontaine, Selket, Toubiana, Julie, Bajolle, Fanny, Fumadó, Victoria, DeDiego, Marta L., Fidouh, Nadhira, Rozenberg, Flore, Pérez-Tur, Jordi, Chen, Shuibing, Evans, Todd, Geissmann, Frédéric, Lebon, Pierre, Weiss, Susan R., Bonnet, Damien, Duval, Xavier, Pan-Hammarström, Qiang, Planas, Anna M., Meyts, Isabelle, Haerynck, Filomeen, Pujol, Aurora, Sancho-Shimizu, Vanessa, Dalgard, Clifford L., Bustamante, Jacinta, Puel, Anne, Boisson-Dupuis, Stéphanie, Boisson, Bertrand, Maniatis, Tom, Zhang, Qian, Bastard, Paul, Notarangelo, Luigi, Béziat, Vivien, de Diego, Rebeca Perez, Rodriguez-Gallego, Carlos, Su, Helen C., Lifton, Richard P., Jouanguy, Emmanuelle, Cobat, Aurélie, Alsina, Laia, Keles, Sevgi, Haddad, Elie, Abel, Laurent, Belot, Alexandre, Quintana-Murci, Lluis, Rice, Charles M., Silverman, Robert H., Zhang, Shen-Ying, Casanova, Jean-Laurent
Publicado 2023

Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease

por Sharma, Mehul, Leung, Daniel, Momenilandi, Mana, Jones, Lauren C.W., Pacillo, Lucia, James, Alyssa E., Murrell, Jill R., Delafontaine, Selket, Maimaris, Jesmeen, Vaseghi-Shanjani, Maryam, Del Bel, Kate L., Lu, Henry Y., Chua, Gilbert T., Di Cesare, Silvia, Fornes, Oriol, Liu, Zhongyi, Di Matteo, Gigliola, Fu, Maggie P., Amodio, Donato, Tam, Issan Yee San, Chan, Gavin Shueng Wai, Sharma, Ashish A., Dalmann, Joshua, van der Lee, Robin, Blanchard-Rohner, Géraldine, Lin, Susan, Philippot, Quentin, Richmond, Phillip A., Lee, Jessica J., Matthews, Allison, Seear, Michael, Turvey, Alexandra K., Philips, Rachael L., Brown-Whitehorn, Terri F., Gray, Christopher J., Izumi, Kosuke, Treat, James R., Wood, Kathleen H., Lack, Justin, Khleborodova, Asya, Niemela, Julie E., Yang, Xingtian, Liang, Rui, Kui, Lin, Wong, Christina Sze Man, Poon, Grace Wing Kit, Hoischen, Alexander, van der Made, Caspar I., Yang, Jing, Chan, Koon Wing, Rosa Duque, Jaime Sou Da, Lee, Pamela Pui Wah, Ho, Marco Hok Kung, Chung, Brian Hon Yin, Le, Huong Thi Minh, Yang, Wanling, Rohani, Pejman, Fouladvand, Ali, Rokni-Zadeh, Hassan, Changi-Ashtiani, Majid, Miryounesi, Mohammad, Puel, Anne, Shahrooei, Mohammad, Finocchi, Andrea, Rossi, Paolo, Rivalta, Beatrice, Cifaldi, Cristina, Novelli, Antonio, Passarelli, Chiara, Arasi, Stefania, Bullens, Dominique, Sauer, Kate, Claeys, Tania, Biggs, Catherine M., Morris, Emma C., Rosenzweig, Sergio D., O’Shea, John J., Wasserman, Wyeth W., Bedford, H. Melanie, van Karnebeek, Clara D.M., Palma, Paolo, Burns, Siobhan O., Meyts, Isabelle, Casanova, Jean-Laurent, Lyons, Jonathan J., Parvaneh, Nima, Nguyen, Anh Thi Van, Cancrini, Caterina, Heimall, Jennifer, Ahmed, Hanan, McKinnon, Margaret L., Lau, Yu Lung, Béziat, Vivien, Turvey, Stuart E.
Publicado 2023