Measurement of CD74 N-terminal Fragment Accumulation in Cells Treated with SPPL2a Inhibitor

Bằng Martínez-Barricarte, Rubén, Kong, Xiao-Fei, Casanova, Jean-Laurent
Xuất bản năm Bio Protoc (2019)

Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes

Bằng Boisson-Dupuis, Stephanie, Kong, Xiao-Fei, Okada, Satoshi, Cypowyj, Sophie, Puel, Anne, Abel, Laurent, Casanova, Jean-Laurent
Được phát hành 2012

Interferon-γ Autoantibodies as Predisposing Factor for Nontuberculous Mycobacterial Infection

Bằng Valour, Florent, Perpoint, Thomas, Sénéchal, Agathe, Kong, Xiao-Fei, Bustamante, Jacinta, Ferry, Tristan, Chidiac, Christian, Ader, Florence
Xuất bản năm Emerg Infect Dis (2016)

Mendelian Susceptibility to Mycobacterial Disease in Egyptian Children

Bằng Galal, Nermeen, Boutros, Jeannette, Marsafy, Aisha, Kong, Xiao-Fei, Feinberg, Jacqueline, Casanova, Jean-Laurent, Boisson-Dupuis, Stéphanie, Bustamante, Jacinta
Được phát hành 2012

Individuals with Down syndrome hospitalized with COVID-19 have more severe disease

Bằng Malle, Louise, Gao, Cynthia, Hur, Chin, Truong, Han Q., Bouvier, Nicole M., Percha, Bethany, Kong, Xiao-Fei, Bogunovic, Dusan
Xuất bản năm Genet Med (2021)

Mendelian susceptibility to mycobacterial disease: 2014–2018 update

Bằng Rosain, Jérémie, Kong, Xiao-Fei, Martinez-Barricarte, Ruben, Oleaga-Quintas, Carmen, Ramirez-Alejo, Noé, Markle, Janet, Okada, Satoshi, Boisson-Dupuis, Stéphanie, Casanova, Jean-Laurent, Bustamante, Jacinta
Xuất bản năm Immunol Cell Biol (2018)

Polymorphisms of microsomal triglyceride transfer protein in different hepatitis B virus-infected patients

Bằng Yang, Zhi-Tao, Zhang, Xin-Xin, Kong, Xiao-Fei, Zhang, Dong-Hua, Zhang, Shen-Ying, Jiang, Jie-Hong, Gong, Qi-Ming, Jin, Gen-Di, Lu, Zhi-Meng
Được phát hành 2008

A Novel Homozygous p.R1105X Mutation of the AP4E1 Gene in Twins with Hereditary Spastic Paraplegia and Mycobacterial Disease

Bằng Kong, Xiao-Fei, Bousfiha, Aziz, Rouissi, Abdelfettah, Itan, Yuval, Abhyankar, Avinash, Bryant, Vanessa, Okada, Satoshi, Ailal, Fatima, Bustamante, Jacinta, Casanova, Jean-Laurent, Hirst, Jennifer, Boisson-Dupuis, Stéphanie
Được phát hành 2013

Assessment of Specific Antibodies to F Protein in Serum Samples from Chinese Hepatitis C Patients Treated with Interferon plus Ribavarin

Bằng Gao, De-Yong, Zhang, Xin-Xin, Hou, Gang, Jin, Gen-Di, Deng, Qiang, Kong, Xiao-Fei, Zhang, Dong-Hua, Ling, Yun, Yu, De-Min, Gong, Qi-Ming, Zhan, Qin, Yao, Bi-Lian, Lu, Zhi-Meng
Được phát hành 2008

A partial form of recessive STAT1 deficiency in humans

Bằng Chapgier, Ariane, Kong, Xiao-Fei, Boisson-Dupuis, Stéphanie, Jouanguy, Emmanuelle, Averbuch, Diana, Feinberg, Jacqueline, Zhang, Shen-Ying, Bustamante, Jacinta, Vogt, Guillaume, Lejeune, Julien, Mayola, Eleonore, de Beaucoudrey, Ludovic, Abel, Laurent, Engelhard, Dan, Casanova, Jean-Laurent
Được phát hành 2009

Paternal Uniparental Isodisomy of Chromosome 6 Causing a Complex Syndrome Including Complete IFN-γ Receptor 1 Deficiency

Bằng Prando, Carolina, Boisson-Dupuis, Stéphanie, Grant, Audrey, Kong, Xiao-Fei, Bustamante, Jacinta, Feinberg, Jacqueline, Chapgier, Ariane, Rose, Yoann, Jannière, Lucile, Rizzardi, Elena, Zhang, Qiuping, Shanahan, Catherine M, Viollet, Louis, Lyonnet, Stanislas, Abel, Laurent, Ruga, Ezia Maria, Casanova, Jean-Laurent
Được phát hành 2010

Clinical and molecular characterization of Wilson's disease in China: identification of 14 novel mutations

Bằng Li, Xin-Hua, Lu, Yi, Ling, Yun, Fu, Qing-Chun, Xu, Jie, Zang, Guo-Qing, Zhou, Feng, De-Min, Yu, Han, Yue, Zhang, Dong-Hua, Gong, Qi-Ming, Lu, Zhi-Meng, Kong, Xiao-Fei, Wang, Jian-She, Zhang, Xin-Xin
Được phát hành 2011

A novel form of cell type-specific partial IFN-γR1 deficiency caused by a germ line mutation of the IFNGR1 initiation codon

Bằng Kong, Xiao-Fei, Vogt, Guillaume, Chapgier, Ariane, Lamaze, Christophe, Bustamante, Jacinta, Prando, Carolina, Fortin, Anny, Puel, Anne, Feinberg, Jacqueline, Zhang, Xin-Xin, Gonnord, Pauline, Pihkala-Saarinen, Ulla M., Arola, Mikko, Moilanen, Petra, Abel, Laurent, Korppi, Matti, Boisson-Dupuis, Stéphanie, Casanova, Jean-Laurent
Được phát hành 2010

A novel form of human STAT1 deficiency impairing early but not late responses to interferons

Bằng Kong, Xiao-Fei, Ciancanelli, Michael, Al-Hajjar, Sami, Alsina, Laia, Zumwalt, Timothy, Bustamante, Jacinta, Feinberg, Jacqueline, Audry, Magali, Prando, Carolina, Bryant, Vanessa, Kreins, Alexandra, Bogunovic, Dusan, Halwani, Rabih, Zhang, Xin-Xin, Abel, Laurent, Chaussabel, Damien, Al-Muhsen, Saleh, Casanova, Jean-Laurent, Boisson-Dupuis, Stéphanie
Được phát hành 2010

A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon

Bằng Oleaga-Quintas, Carmen, Deswarte, Caroline, Moncada-Vélez, Marcela, Metin, Ayse, Krishna Rao, Indumathi, Kanık-Yüksek, Saliha, Nieto-Patlán, Alejandro, Guérin, Antoine, Gülhan, Belgin, Murthy, Savita, Özkaya-Parlakay, Aslınur, Abel, Laurent, Martínez-Barricarte, Rubén, Pérez de Diego, Rebeca, Boisson-Dupuis, Stéphanie, Kong, Xiao-Fei, Casanova, Jean-Laurent, Bustamante, Jacinta
Xuất bản năm Hum Mol Genet (2018)

A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon

Bằng Oleaga-Quintas, Carmen, Deswarte, Caroline, Moncada-Vélez, Marcela, Metin, Ayse, Krishna Rao, Indumathi, Kanık-Yüksek, Saliha, Nieto-Patlán, Alejandro, Guérin, Antoine, Gülhan, Belgin, Murthy, Savita, Özkaya-Parlakay, Aslınur, Abel, Laurent, Martínez-Barricarte, Rubén, Pérez de Diego, Rebeca, Boisson-Dupuis, Stéphanie, Kong, Xiao-Fei, Casanova, Jean-Laurent, Bustamante, Jacinta
Xuất bản năm Hum Mol Genet (2019)

Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease

Bằng Tsumura, Miyuki, Okada, Satoshi, Sakai, Hidemasa, Yasunaga, Shin’ichiro, Ohtsubo, Motoaki, Murata, Takuji, Obata, Hideto, Yasumi, Takahiro, Kong, Xiao-Fei, Abhyankar, Avinash, Heike, Toshio, Nakahata, Tatsutoshi, Nishikomori, Ryuta, Al-Muhsen, Saleh, Boisson-Dupuis, Stéphanie, Casanova, Jean-Laurent, AlZahrani, Mofareh, Shehri, Mohammed Al, ElGhazali, Geyhad, Takihara, Yoshihiro, Kobayashi, Masao
Được phát hành 2012

Mycobacterium simiae infection in two unrelated patients with different forms of inherited IFN-γR2 deficiency

Bằng Martínez-Barricarte, Rubén, Megged, Orli, Stepensky, Polina, Casimir, Pierre, Moncada-Velez, Marcela, Averbuch, Diana, Assous, Marc Victor, Abuzaitoun, Omar, Kong, Xiao-Fei, Pedergnana, Vincent, Deswarte, Caroline, Migaud, Mélanie, Rose-John, Stefan, Itan, Yuval, Boisson, Bertrand, Belkadi, Aziz, Conti, Francesca, Abel, Laurent, Vogt, Guillaume, Boisson-Dupuis, Stephanie, Casanova, Jean-Laurent, Bustamante, Jacinta
Xuất bản năm J Clin Immunol (2014)

Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis

Bằng Mizoguchi, Yoko, Tsumura, Miyuki, Okada, Satoshi, Hirata, Osamu, Minegishi, Shizuko, Imai, Kohsuke, Hyakuna, Nobuyuki, Muramatsu, Hideki, Kojima, Seiji, Ozaki, Yusuke, Imai, Takehide, Takeda, Sachiyo, Okazaki, Tetsuya, Ito, Tsuyoshi, Yasunaga, Shin'ichiro, Takihara, Yoshihiro, Bryant, Vanessa L., Kong, Xiao-Fei, Cypowyj, Sophie, Boisson-Dupuis, Stéphanie, Puel, Anne, Casanova, Jean-Laurent, Morio, Tomohiro, Kobayashi, Masao
Được phát hành 2014

A deep intronic splice mutation of STAT3 underlies hyper IgE syndrome by negative dominance

Bằng Khourieh, Joëlle, Rao, Geetha, Habib, Tanwir, Avery, Danielle T., Lefèvre-Utile, Alain, Chandesris, Marie-Olivia, Belkadi, Aziz, Chrabieh, Maya, Alwaseem, Hanan, Grandin, Virginie, Sarrot-Reynauld, Françoise, Sénéchal, Agathe, Lortholary, Olivier, Kong, Xiao-Fei, Boisson-Dupuis, Stéphanie, Picard, Capucine, Puel, Anne, Béziat, Vivien, Zhang, Qian, Abel, Laurent, Molina, Henrik, Marr, Nico, Tangye, Stuart G., Casanova, Jean-Laurent, Boisson, Bertrand
Xuất bản năm Proc Natl Acad Sci U S A (2019)