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Journal of Clinical Investigation, ISSN 0021-9738, 12/2017, Volume 127, Issue 12, pp. 4415 - 4420
Primary immunodeficiencies are often monogenic disorders characterized by vulnerability to specific infectious pathogens. Here, we performed whole-exome... 
MEDICINE, RESEARCH & EXPERIMENTAL | IMMUNITY | ACTIVATOR | INTERFERON-GAMMA | MYCOBACTERIAL DISEASE | ALPHA/BETA | MENDELIAN SUSCEPTIBILITY | CLINICAL-FEATURES | DEFICIENCY | SIGNAL TRANSDUCER | INBORN-ERRORS | Bacteremia - immunology | Genetic Diseases, Inborn - microbiology | STAT2 Transcription Factor - immunology | Humans | Genetic Diseases, Inborn - genetics | Genetic Diseases, Inborn - virology | Male | Cytomegalovirus Infections - immunology | Cytomegalovirus Infections - genetics | Bacteremia - microbiology | Streptococcal Infections - genetics | Phosphorylation - genetics | Female | Phosphorylation - immunology | Receptor, Interferon alpha-beta - genetics | Fibroblasts - microbiology | Mycobacterium Infections, Nontuberculous - immunology | Immunologic Deficiency Syndromes - immunology | Receptors, Interferon - genetics | Fibroblasts - virology | Genetic Diseases, Inborn - immunology | Viremia - genetics | Viridans Streptococci - immunology | Bacteremia - genetics | Immunologic Deficiency Syndromes - virology | STAT1 Transcription Factor - genetics | Immunologic Deficiency Syndromes - microbiology | STAT1 Transcription Factor - immunology | Cytomegalovirus - immunology | Mycobacterium abscessus - immunology | Receptor, Interferon alpha-beta - immunology | Receptors, Interferon - immunology | Viremia - virology | STAT2 Transcription Factor - genetics | Immunologic Deficiency Syndromes - genetics | Fibroblasts - immunology | Viremia - immunology | Streptococcal Infections - immunology | Mutation | Mycobacterium Infections, Nontuberculous - genetics | Virus diseases | Usage | Immunotherapy | Genetic aspects | Disease susceptibility | Research | Mutation (Biology) | Stat2 protein | Cytomegalovirus | Phosphorylation | Viremia | Immunodeficiency | Stop codon | C-Terminus | Gene deletion | Bacteremia | Nuclear transport | α-Interferon | Clonal deletion | Fibroblasts | Interferon | Codons | Stat1 protein | Viral infections | Index Medicus | Abridged Index Medicus
Journal Article
by Thomas, H.S and Weiser, T.G and Drake, T.M and Knight, S.R and Fairfield, C and Ademuyiwa, A.O and Aguilera, M.L and Alexander, P and Al-Saqqa, S.W and Borda-Luque, G and Costas-Chavarri, A and Ntirenganya, F and Fitzgerald, J.E and Fergusson, S.J and Glasbey, J and Ingabire, J.C.A and Ismaïl, L and Salem, H.K and Kojo, A.T.T and Lapitan, M.C and Lilford, R and Mihaljevic, A.L and Morton, D and Mutabazi, A.Z and Nepogodiev, D and Adisa, A.O and Ots, R and Pata, F and Pinkney, T and Qureshi, A.U and la Medina, A.R and Rayne, S and Shaw, C.A and Shu, S and Spence, R and Smart, N and Tabiri, S and Bhangu, A and Harrison, E.M and Verjee, A and Runigamugabo, E and Altamini, A and Cornick, J and Jaffry, Z and Khatri, C and Kirby, A and Mohan, M and Recinos, G and Søreide, K and Gobin, N and Freitas, A.V and Hall, N and Kim, S.H and Negida, A and Khairy, H and Chapman, S.J and Arnaud, A.P and Manipal, C.E and Amandito, R and Shawki, M and Hanrahan, M and Zilinskas, J and Roslani, A.C and Goh, C.C and Irwin, G and Luque, L and Shiwani, H and Altamimi, A and Alsaggaf, M.U and Jeyakumar, J and Cengiz, Y and Raptis, D.A and Glasbey, J.C and Modolo, M.M and Iyer, D and King, S and Arthur, T and Nahar, S.N and Waterman, A and Walsh, L.I and Agarwal, A and Zani, A and Firdouse, M and Rouse, T and Liu, Q and Correa, J.C and Talving, P and Worku, M and Arnaud, A and Kalles, V and Kumar, B and Kumar, S and Quek, R and Ansaloni, L and Altibi, A and Venskutonis, D and Poskus, T and Whitaker, J and Msosa, V and Tew, Y.Y and ... and GlobalSurg Collaborative
British Journal of Surgery, ISSN 0007-1323, 01/2019, Volume 106, Issue 2, pp. e103 - e112
Journal Article
by Drake, Thomas M and Camilleri-Brennan, Julian and Tabiri, Stephen and Fergusson, Stuart J and Spence, Richard and Fitzgerald, J. Edward F and Bhangu, Aneel and Harrison, Ewen M and Ademuyiwa, Adesoji O and Fergusson, Stuart and Glasbey, James C and Khatri, Chetan and Mohan, Midhun and Nepogodiev, Dmitri and Søreide, Kjetil and Gobin, Neel and Freitas, Ana Vega and Hall, Nigel and Kim, Sung-Hee and Negida, Ahmed and Jaffry, Zahra and Chapman, Stephen J and Arnaud, Alexis P and Recinos, Gustavo and Manipal, Cutting Edge and Amandito, Radhian and Shawki, Marwan and Hanrahan, Michael and Pata, Francesco and Zilinskas, Justas and Roslani, April Camilla and Goh, Cheng Chun and Irwin, Gareth and Shu, Sebastian and Luque, Laura and Shiwani, Hunain and Altamimi, Afnan and Alsaggaf, Mohammed Ubaid and Rayne, Sarah and Jeyakumar, Jenifa and Cengiz, Yucel and Raptis, Dmitri A and Fermani, Claudio and Balmaceda, Ruben and Modolo, Maria Marta and Macdermid, Ewan and Chenn, Roxanne and Yong, Cheryl Ou and Edye, Michael and Jarmin, Martin and D’amours, Scott K and Iyer, Dushyant and Youssef, Daniel and Phillips, Nicholas and Brown, Jason and George, Robert and Koh, Cherry and Warren, Oliver and Hanley, Isaac and Dickfos, Marilla and Nawara, Clemens and Öfner, Dietmar and Primavesi, Florian and Mitul, Ashrarur Rahman and Mahmud, Khalid and Hussain, Margub and Hakim, Hafiz and Kumar, Tapan and Oosterkamp, Antje and Assouto, Pamphile A and Lawani, Ismail and Souaibou, Yacoubou Imorou and Tun, Aung Kyaw and Chong, Chean Leung and Devadasar, Giridhar H and Qadir, Muhammad Rashid Minhas and Aung, Kyaw Phyo and Yeo, Lee Shi and Castillo, Vanessa Dina Palomino and Munhoz, Monique Moron and Moreira, Gisele and De Castro Segundo, Luiz Carlos Barros and Ferreira, Salim Anderson Khouri and Careta, Maíra Cassa and Kim, Stella Binna and De Sousa, Alexandre Venancio and Cury, Alyne Daltri Lazzarini and Miguel, Gustavo Peixoto Soares and De Freitas, Ana Vega Carreiro and Silvestre, Barbara Pereira and Vianna, Julia Guasti Pinto and Felipe, Carolina Oliveira and Laufer, Luis Alberto Valente and Altoe, Fernanda and Da Silva, Luana Ayres and Pimenta, Marina Luiza and Giuriato, Thiago Fernandes and Morais, Paulo Alves Bezerra and Luiz, Jessica Souza and Araujo, Rafael and ... and GlobalSurg Collaborative
Surgical Endoscopy, ISSN 0930-2794, 8/2018, Volume 32, Issue 8, pp. 3450 - 3466
Journal Article