Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations
Miot, Charline, Imai, Kohsuke, Imai, Chihaya, Mancini, Anthony J., Kucuk, Zeynep Yesim, Kawai, Tokomki, Nishikomori, Ryuta, Ito, Etsuro, Pellier, Isabelle, Dupuis Girod, Sophie, Rosain, Jeremie, Sasaki, Shinya, Chandrakasan, Shanmuganathan, Pachlopnik Schmid, Jana, Okano, Tsubasa, Colin, Estelle, Olaya-Vargas, Alberto, Yamazaki-Nakashimada, Marco, Qasim, Waseem, Espinosa Padilla, Sara, Jones, Andrea, Krol, Alfons, Cole, Nyree, Jolles, Stephen, Bleesing, Jack, Vraetz, Thomas, Gennery, Andrew R., Abinun, Mario, Güngör, Tayfun, Costa-Carvalho, Beatriz, Condino-Neto, Antonio, Veys, Paul, Holland, Steven M., Uzel, Gulbu, Moshous, Despina, Neven, Benedicte, Blanche, Stéphane, Ehl, Stephan, Döffinger, Rainer, Patel, Smita Y., Puel, Anne, Bustamante, Jacinta, Gelfand, Erwin W., Casanova, Jean-Laurent, Orange, Jordan S., Picard, Capucine
Published in Blood (21.09.2017)
Published in Blood (21.09.2017)
Get full text
Journal Article
Age-associated B cells predict impaired humoral immunity after COVID-19 vaccination in patients receiving immune checkpoint blockade
Yam-Puc, Juan Carlos, Hosseini, Zhaleh, Horner, Emily C., Gerber, Pehuén Pereyra, Beristain-Covarrubias, Nonantzin, Hughes, Robert, Lulla, Aleksei, Rust, Maria, Boston, Rebecca, Ali, Magda, Fischer, Katrin, Simmons-Rosello, Edward, O’Reilly, Martin, Robson, Harry, Booth, Lucy H., Kahanawita, Lakmini, Correa-Noguera, Andrea, Favara, David, Ceron-Gutierrez, Lourdes, Keller, Baerbel, Craxton, Andrew, Anderson, Georgina S. F., Sun, Xiao-Ming, Elmer, Anne, Saunders, Caroline, Bermperi, Areti, Jose, Sherly, Kingston, Nathalie, Mulroney, Thomas E., Piñon, Lucia P. G., Chapman, Michael A., Grigoriadou, Sofia, MacFarlane, Marion, Willis, Anne E., Patil, Kiran R., Spencer, Sarah, Staples, Emily, Warnatz, Klaus, Buckland, Matthew S., Hollfelder, Florian, Hyvönen, Marko, Döffinger, Rainer, Parkinson, Christine, Lear, Sara, Matheson, Nicholas J., Thaventhiran, James E. D.
Published in Nature communications (27.06.2023)
Published in Nature communications (27.06.2023)
Get full text
Journal Article
Simultaneous disseminated infections with intracellular pathogens: an intriguing case report of adult-onset immunodeficiency with anti-interferon-gamma autoantibodies
Roerden, Malte, Döffinger, Rainer, Barcenas-Morales, Gabriela, Forchhammer, Stephan, Döbele, Stefanie, Berg, Christoph P
Published in BMC infectious diseases (11.11.2020)
Published in BMC infectious diseases (11.11.2020)
Get full text
Journal Article
Protein microarrays identify disease-specific anti-cytokine autoantibody profiles in the landscape of immunodeficiency
Rosenberg, Jacob M., ScB, Price, Jordan V., PhD, Barcenas-Morales, Gabriela, PhD, Ceron-Gutierrez, Lourdes, BSc, MSc, Davies, Sophie, BSc, Kumararatne, Dinakantha S., MBBS, FRCpath, DPhil, Döffinger, Rainer, PhD, FRCPath, Utz, Paul J., MD
Published in Journal of allergy and clinical immunology (01.01.2016)
Published in Journal of allergy and clinical immunology (01.01.2016)
Get full text
Journal Article
Mucosal-Associated Invariant T (MAIT) Cells Are Impaired in Th17 Associated Primary and Secondary Immunodeficiencies
Gao, Yifang, Rae, William, Ramakrishnan, Keseva Ananth, Barcenas-Morales, Gabriela, Döffinger, Rainer, Eren, Efrem, Faust, Saul N, Ottensmeier, Christian H, Williams, Anthony P
Published in PloS one (11.05.2016)
Published in PloS one (11.05.2016)
Get full text
Journal Article
The NF-κB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes
Smahi, Asma, Courtois, Gilles, Rabia, Smail Hadj, Döffinger, Rainer, Bodemer, Christine, Munnich, Arnold, Casanova, Jean-Laurent, Israël, Alain
Published in Human molecular genetics (01.10.2002)
Published in Human molecular genetics (01.10.2002)
Get full text
Journal Article
Impairment of Mycobacterial Immunity in Human Interleukin-12 Receptor Deficiency
Altare, Frédéric, Durandy, Anne, Lammas, David, Emile, Jean-François, Lamhamedi, Salma, Le Deist, Françoise, Drysdale, Pam, Jouanguy, Emmanuelle, Döffinger, Rainer, Bernaudin, Françoise, Jeppsson, Olle, Gollob, Jared A., Meinl, Edgar, Segal, Antony W., Fischer, Alain, Kumararatne, Dinakantha, Casanova, Jean-Laurent
Published in Science (American Association for the Advancement of Science) (29.05.1998)
Published in Science (American Association for the Advancement of Science) (29.05.1998)
Get full text
Journal Article
Autoantibodies against cytokines: phenocopies of primary immunodeficiencies?
Ku, Chen-Lung, Chi, Chih-Yu, von Bernuth, Horst, Doffinger, Rainer
Published in Human genetics (01.06.2020)
Published in Human genetics (01.06.2020)
Get full text
Journal Article
Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother
Dupuis-Girod, Sophie, Corradini, Nadège, Hadj-Rabia, Smail, Fournet, Jean-Christophe, Faivre, Laurence, Le Deist, Françoise, Durand, Philippe, Döffinger, Rainer, Smahi, Asma, Israel, Alain, Courtois, Gilles, Brousse, Nicole, Blanche, Stéphane, Munnich, Arnold, Fischer, Alain, Casanova, Jean-Laurent, Bodemer, Christine
Published in Pediatrics (Evanston) (01.06.2002)
Published in Pediatrics (Evanston) (01.06.2002)
Get more information
Journal Article
The NEMO Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic Because of a Reinitiation of Translation
Puel, Anne, Reichenbach, Janine, Bustamante, Jacinta, Ku, Cheng-Lung, Feinberg, Jacqueline, Döffinger, Rainer, Bonnet, Marion, Filipe-Santos, Orchidée, Beaucoudrey, Ludovic de, Durandy, Anne, Horneff, Gerd, Novelli, Francesco, Wahn, Volker, Smahi, Asma, Israel, Alain, Niehues, Tim, Casanova, Jean-Laurent
Published in American journal of human genetics (01.04.2006)
Published in American journal of human genetics (01.04.2006)
Get full text
Journal Article
Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation
Cuchet-Lourenço, Delphine, Eletto, Davide, Wu, Changxin, Plagnol, Vincent, Papapietro, Olivier, Curtis, James, Ceron-Gutierrez, Lourdes, Bacon, Chris M, Hackett, Scott, Alsaleem, Badr, Maes, Mailis, Gaspar, Miguel, Alisaac, Ali, Goss, Emma, AlIdrissi, Eman, Siegmund, Daniela, Wajant, Harald, Kumararatne, Dinakantha, AlZahrani, Mofareh S, Arkwright, Peter D, Abinun, Mario, Doffinger, Rainer, Nejentsev, Sergey
Published in Science (American Association for the Advancement of Science) (24.08.2018)
Published in Science (American Association for the Advancement of Science) (24.08.2018)
Get full text
Journal Article
A robust model for read count data in exome sequencing experiments and implications for copy number variant calling
PLAGNOL, Vincent, CURTIS, James, KUMARARATNE, Dinakantha, DOFFINGER, Rainer, NEJENTSEV, Sergey, EPSTEIN, Michael, MOK, Kin Y, STEBBINGS, Emma, GRIGORIADOU, Sofia, WOOD, Nicholas W, HAMBLETON, Sophie, BURNS, Siobhan O, THRASHER, Adrian J
Published in Bioinformatics (01.11.2012)
Published in Bioinformatics (01.11.2012)
Get full text
Journal Article
The transmembrane activator TACI triggers immunoglobulin class switching by activating B cells through the adaptor MyD88
Cerutti, Andrea, He, Bing, Santamaria, Raul, Xu, Weifeng, Cols, Montserrat, Chen, Kang, Puga, Irene, Shan, Meimei, Xiong, Huabao, Bussel, James B, Chiu, April, Puel, Anne, Reichenbach, Jeanine, Marodi, László, Döffinger, Rainer, Vasconcelos, Julia, Issekutz, Andrew, Krause, Jens, Davies, Graham, Li, Xiaoxia, Grimbacher, Bodo, Plebani, Alessandro, Meffre, Eric, Picard, Capucine, Cunningham-Rundles, Charlotte, Casanova, Jean-Laurent
Published in Nature immunology (01.09.2010)
Published in Nature immunology (01.09.2010)
Get full text
Journal Article
Inherited salt-losing tubulopathies are associated with immunodeficiency due to impaired IL-17 responses
Evans, Rhys D. R., Antonelou, Marilina, Sathiananthamoorthy, Sanchutha, Rega, Marilena, Henderson, Scott, Ceron-Gutierrez, Lourdes, Barcenas-Morales, Gabriela, Müller, Christoph A., Doffinger, Rainer, Walsh, Stephen B., Salama, Alan D.
Published in Nature communications (31.08.2020)
Published in Nature communications (31.08.2020)
Get full text
Journal Article
Interferon gamma replacement as salvage therapy in chronic pulmonary aspergillosis: effects on frequency of acute exacerbation and all-cause hospital admission
Monk, Edward J M, Harris, Chris, Döffinger, Rainer, Hayes, Gemma, Denning, David W, Kosmidis, Chris
Published in Thorax (01.06.2020)
Published in Thorax (01.06.2020)
Get full text
Journal Article
Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection
Eletto, Davide, Burns, Siobhan O., Angulo, Ivan, Plagnol, Vincent, Gilmour, Kimberly C., Henriquez, Frances, Curtis, James, Gaspar, Miguel, Nowak, Karolin, Daza-Cajigal, Vanessa, Kumararatne, Dinakantha, Doffinger, Rainer, Thrasher, Adrian J., Nejentsev, Sergey
Published in Nature communications (23.12.2016)
Published in Nature communications (23.12.2016)
Get full text
Journal Article
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)
Get full text
Journal Article