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IRF8 Mutations and Human Dendritic-Cell Immunodeficiency
Hambleton, Sophie, Salem, Sandra, Bustamante, Jacinta, Bigley, Venetia, Boisson-Dupuis, Stéphanie, Azevedo, Joana, Fortin, Anny, Haniffa, Muzlifah, Ceron-Gutierrez, Lourdes, Bacon, Chris M, Menon, Geetha, Trouillet, Céline, McDonald, David, Carey, Peter, Ginhoux, Florent, Alsina, Laia, Zumwalt, Timothy J, Kong, Xiao-Fei, Kumararatne, Dinakantha, Butler, Karina, Hubeau, Marjorie, Feinberg, Jacqueline, Al-Muhsen, Saleh, Cant, Andrew, Abel, Laurent, Chaussabel, Damien, Doffinger, Rainer, Talesnik, Eduardo, Grumach, Anete, Duarte, Alberto, Abarca, Katia, Moraes-Vasconcelos, Dewton, Burk, David, Berghuis, Albert, Geissmann, Frédéric, Collin, Matthew, Casanova, Jean-Laurent, Gros, Philippe
Published in The New England journal of medicine (14.07.2011)
Published in The New England journal of medicine (14.07.2011)
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Journal Article
Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants
Kagawa, Reiko, Fujiki, Ryoji, Tsumura, Miyuki, Sakata, Sonoko, Nishimura, Shiho, Itan, Yuval, Kong, Xiao-Fei, Kato, Zenichiro, Ohnishi, Hidenori, Hirata, Osamu, Saito, Satoshi, Ikeda, Maiko, El Baghdadi, Jamila, Bousfiha, Aziz, Fujiwara, Kaori, Oleastro, Matias, Yancoski, Judith, Perez, Laura, Danielian, Silvia, Ailal, Fatima, Takada, Hidetoshi, Hara, Toshiro, Puel, Anne, Boisson-Dupuis, Stéphanie, Bustamante, Jacinta, Casanova, Jean-Laurent, Ohara, Osamu, Okada, Satoshi, Kobayashi, Masao
Published in Journal of allergy and clinical immunology (01.07.2017)
Published in Journal of allergy and clinical immunology (01.07.2017)
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Journal Article
First Brazilian Case Report of Unrelated Patients with Identical ISG15 Mutation
Napoleao, Sarah Maria da Silva, Salgado, Ranieri Coelho, Ferreira, Janaira Fernandes Severo, de Barros Dorna, Mayra, de Moura, Thais Costa Lima, França, Tábata Takahashi, Barreiros, Lucila Akune, Gomes, Lillian Nunes, Condino-Neto, Antonio
Published in Journal of clinical immunology (01.12.2025)
Published in Journal of clinical immunology (01.12.2025)
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Journal Article
Severe impairment of IFN-γ and IFN-α responses in cells of a patient with a novel STAT1 splicing mutation
Vairo, Donatella, Tassone, Laura, Tabellini, Giovanna, Tamassia, Nicola, Gasperini, Sara, Bazzoni, Flavia, Plebani, Alessandro, Porta, Fulvio, Notarangelo, Luigi D., Parolini, Silvia, Giliani, Silvia, Badolato, Raffaele
Published in Blood (18.08.2011)
Published in Blood (18.08.2011)
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Journal Article
Novel STAT1 Variants in Japanese Patients with Isolated Mendelian Susceptibility to Mycobacterial Diseases
Ono, Rintaro, Tsumura, Miyuki, Shima, Saho, Matsuda, Yusuke, Gotoh, Kenji, Miyata, Yurina, Yoto, Yuko, Tomomasa, Dan, Utsumi, Takanori, Ohnishi, Hidenori, Kato, Zenichiro, Ishiwada, Naruhiko, Ishikawa, Aki, Wada, Taizo, Uhara, Hisashi, Nishikomori, Ryuta, Hasegawa, Daisuke, Okada, Satoshi, Kanegane, Hirokazu
Published in Journal of clinical immunology (01.02.2023)
Published in Journal of clinical immunology (01.02.2023)
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Journal Article
Polymorphisms in Protein Tyrosine Phosphatase Non-receptor Type 2 and 22 (PTPN2/22) Are Linked to Hyper-Proliferative T-Cells and Susceptibility to Mycobacteria in Rheumatoid Arthritis
Sharp, Robert C., Beg, Shazia A., Naser, Saleh A.
Published in Frontiers in cellular and infection microbiology (25.01.2018)
Published in Frontiers in cellular and infection microbiology (25.01.2018)
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Journal Article
Evolutionary genetics evidence of an essential, nonredundant role of the IFN-γ pathway in protective immunity
Manry, Jérémy, Laval, Guillaume, Patin, Etienne, Fornarino, Simona, Tichit, Magali, Bouchier, Christiane, Barreiro, Luis B., Quintana-Murci, Lluis
Published in Human mutation (01.06.2011)
Published in Human mutation (01.06.2011)
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Journal Article
A genetic perspective on granulomatous diseases with an emphasis on mycobacterial infections
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Journal Article
Book Review