Search Results - "DOFFINGER, Rainer"

Autoantibodies against cytokines: phenocopies of primary immunodeficiencies? by Ku, Chen-Lung, Chi, Chih-Yu, von Bernuth, Horst, Doffinger, Rainer

“…Anti-cytokine autoantibodies may cause immunodeficiency and have been recently recognized as ‘autoimmune phenocopies of primary immunodeficiencies’ and are…”
Get full text

Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation by 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

“…RIPK1 (receptor-interacting serine/threonine kinase 1) is a master regulator of signaling pathways leading to inflammation and cell death and is of medical…”
Get full text

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling by 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

“…Exome sequencing has proven to be an effective tool to discover the genetic basis of Mendelian disorders. It is well established that copy number variants…”
Get full text

The transmembrane activator TACI triggers immunoglobulin class switching by activating B cells through the adaptor MyD88 by 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

“…Immunoglobulin class-switch recombination can be induced by the secreted factors BAFF and APRIL. Cerutti and colleagues show that the receptor TACI conveys…”
Get full text

Inherited salt-losing tubulopathies are associated with immunodeficiency due to impaired IL-17 responses by 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.

“…Increased extracellular sodium activates Th17 cells, which provide protection from bacterial and fungal infections. Whilst high salt diets have been shown to…”
Get full text

Anticytokine autoantibodies leading to infection: early recognition, diagnosis and treatment options by Barcenas-Morales, Gabriela, Cortes-Acevedo, Paulina, Doffinger, Rainer

“…PURPOSE OF REVIEWThe current review gives a concise and updated overview of the relative new field of anticytokine autoantibodies (ACAA) and associated…”
Get full text

Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection by 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

“…Mutations in genes encoding components of the immune system cause primary immunodeficiencies. Here, we study a patient with recurrent atypical mycobacterial…”
Get full text

IRF8 Mutations and Human Dendritic-Cell Immunodeficiency by 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

“…Monocytes and dendritic cells regulate adaptive and innate immunity. This study uncovers an association between mutations in the gene encoding interferon…”
Get full text

Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance by Zhang, Zinan, Gothe, Florian, Pennamen, Perrine, James, John R, McDonald, David, Mata, Carlos P, Modis, Yorgo, Alazami, Anas M, Acres, Meghan, Haller, Wolfram, Bowen, Claire, Döffinger, Rainer, Sinclair, Jan, Brothers, Shannon, Zhang, Yu, Matthews, Helen F, Naudion, Sophie, Pelluard, Fanny, Alajlan, Huda, Yamazaki, Yasuhiro, Notarangelo, Luigi D, Thaventhiran, James E, Engelhardt, Karin R, Al-Mousa, Hamoud, Hambleton, Sophie, Rooryck, Caroline, Smith, Kenneth G C, Lenardo, Michael J

“…Interleukin-2, which conveys essential signals for immunity, operates through a heterotrimeric receptor. Here we identify human interleukin-2 receptor (IL-2R)…”
Get full text

Anticytokine autoantibodies in infection and inflammation: an update by Barcenas-Morales, Gabriela, Jandus, Peter, Döffinger, Rainer

“…PURPOSE OF REVIEWConcise overview of the field of anticytokine autoantibodies with a focus on recent developments. RECENT FINDINGSAdvances in particular in the…”
Get full text

The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency by Bigley, Venetia, Haniffa, Muzlifah, Doulatov, Sergei, Wang, Xiao-Nong, Dickinson, Rachel, McGovern, Naomi, Jardine, Laura, Pagan, Sarah, Dimmick, Ian, Chua, Ignatius, Wallis, Jonathan, Lordan, Jim, Morgan, Cliff, Kumararatne, Dinakantha S, Doffinger, Rainer, van der Burg, Mirjam, van Dongen, Jacques, Cant, Andrew, Dick, John E, Hambleton, Sophie, Collin, Matthew

“…Congenital or acquired cellular deficiencies in humans have the potential to reveal much about normal hematopoiesis and immune function. We show that a…”
Get full text

Hematopoietic Stem Cell Transplantation Resolves the Immune Deficit Associated with STAT3-Dominant-Negative Hyper-IgE Syndrome by Harrison, Stephanie C., Tsilifis, Christo, Slatter, Mary A., Nademi, Zohreh, Worth, Austen, Veys, Paul, Ponsford, Mark J., Jolles, Stephen, Al-Herz, Waleed, Flood, Terence, Cant, Andrew J., Doffinger, Rainer, Barcenas-Morales, Gabriela, Carpenter, Ben, Hough, Rachael, Haraldsson, Ásgeir, Heimall, Jennifer, Grimbacher, Bodo, Abinun, Mario, Gennery, Andrew R.

“…Autosomal dominant hyper-IgE syndrome caused by dominant-negative loss-of-function mutations in signal transducer and activator of transcription factor 3 (…”
Get full text

SARS-COV-2 antibody responses to AZD1222 vaccination in West Africa by Abdullahi, Adam, Oladele, David, Owusu, Michael, Kemp, Steven A., Ayorinde, James, Salako, Abideen, Fink, Douglas, Ige, Fehintola, Ferreira, Isabella A. T. M., Meng, Bo, Sylverken, Augustina Angelina, Onwuamah, Chika, Boadu, Kwame Ofori, Osuolale, Kazeem, Frimpong, James Opoku, Abubakar, Rufai, Okuruawe, Azuka, Abdullahi, Haruna Wisso, Liboro, Gideon, Agyemang, Lawrence Duah, Ayisi-Boateng, Nana Kwame, Odubela, Oluwatosin, Ohihoin, Gregory, Ezechi, Oliver, Kamasah, Japhet Senyo, Ameyaw, Emmanuel, Arthur, Joshua, Kyei, Derrick Boakye, Owusu, Dorcas Ohui, Usman, Olagoke, Mogaji, Sunday, Dada, Adedamola, Agyei, George, Ebrahimi, Soraya, Gutierrez, Lourdes Ceron, Aliyu, Sani H., Doffinger, Rainer, Audu, Rosemary, Adegbola, Richard, Mlcochova, Petra, Phillips, Richard Odame, Solako, Babatunde Lawal, Gupta, Ravindra K.

“…Real-world data on vaccine-elicited neutralising antibody responses for two-dose AZD1222 in African populations are limited. We assessed baseline SARS-CoV-2…”
Get full text

A protease-activatable luminescent biosensor and reporter cell line for authentic SARS-CoV-2 infection by Gerber, Pehuén Pereyra, Duncan, Lidia M, Greenwood, Edward Jd, Marelli, Sara, Naamati, Adi, Teixeira-Silva, Ana, Crozier, Thomas Wm, Gabaev, Ildar, Zhan, Jun R, Mulroney, Thomas E, Horner, Emily C, Doffinger, Rainer, Willis, Anne E, Thaventhiran, James Ed, Protasio, Anna V, Matheson, Nicholas J

“…Efforts to define serological correlates of protection against COVID-19 have been hampered by the lack of a simple, scalable, standardised assay for SARS-CoV-2…”
Get full text

Novel PLCG2 Mutation in a Patient With APLAID and Cutis Laxa by Neves, João Farela, Doffinger, Rainer, Barcena-Morales, Gabriela, Martins, Catarina, Papapietro, Olivier, Plagnol, Vincent, Curtis, James, Martins, Marta, Kumararatne, Dinakantha, Cordeiro, Ana Isabel, Neves, Conceição, Borrego, Luis Miguel, Katan, Matilda, Nejentsev, Sergey

“…The auto-inflammation and phospholipase Cγ2 (PLCγ2)-associated antibody deficiency and immune dysregulation (APLAID) syndrome is a rare primary…”
Get full text

Inborn Errors of Immunity—the Sri Lankan Experience 2010–2022 by Dasanayake, Dhanushka, Bustamante, Jacinta, Boisson–Dupuis, Stéphanie, Karunatilleke, Chandima, Thambyrajah, James, Puel, Anne, Chan, Koon Wing, Doffinger, Rainer, Lau, Yu-Lung, Casanova, Jean-Laurent, Kumararatne, Dinakantha, de Silva, Rajiva

“…Purpose Inborn errors of immunity (IEI) are typically monogenic. Data from the Indian subcontinent are relatively scarce. This paper evaluates IEI diagnosed in…”
Get full text

Inflammation and infection in human cocaine addiction by Ersche, Karen D, Döffinger, Rainer

“…•High levels of infection in cocaine addiction cannot be explained by risk-taking behaviour alone.•Chronic cocaine use seems to be associated with a decline in…”
Get full text

Anticytokine autoantibodies in a patient with a heterozygous NFKB2 mutation by Ramakrishnan, Kesava A., Rae, William, Barcenas-Morales, Gabriela, Gao, Yifang, Pengelly, Reuben J., Patel, Sanjay V., Kumararatne, Dinakantha S., Ennis, Sarah, Döffinger, Rainer, Faust, Saul N., Williams, Anthony P.

“…[...]she developed recurrent deep-seated pyogenic bacterial infections throughout childhood and early teenage years, which included a deep abscess in the left…”
Get full text

LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia by Burns, Siobhan O., MD, PhD, Zenner, Helen L., PhD, Plagnol, Vincent, PhD, Curtis, James, BSc, Mok, Kin, MBBS, MSc, Eisenhut, Michael, MD, Kumararatne, Dinakantha, MD, Doffinger, Rainer, PhD, Thrasher, Adrian J., MD, PhD, Nejentsev, Sergey, MD, PhD

“…[...]she received several courses of steroids, rituximab (with prophylactic immunoglobulin replacement), and mycophenolate mofetil. Because of further chest…”
Get full text

Anti–IFN-γ autoantibodies are strongly associated with HLA-DR15:02/16:02 and HLA-DQ05:01/05:02 across Southeast Asia by Ku, Cheng-Lung, PhD, Lin, Chia-Hao, MS, Chang, Su-Wei, PhD, Chu, Chen-Chung, PhD, Chan, Jasper F.W., MBBS, Kong, Xiao-Fei, MD, PhD, Lee, Chen-Hsiang, MD, Rosen, Emily A., BS, Ding, Jing-Ya, MS, Lee, Wen-I., MD, PhD, Bustamante, Jacinta, MD, PhD, Witte, Torsten, MD, Shih, Han-Po, MS, Kuo, Chen-Yen, MD, Chetchotisakd, Ploenchan, MD, Kiertiburanakul, Sasisopin, MD, Suputtamongkol, Yupin, MD, Yuen, Kwok-Yung, MD, Casanova, Jean-Laurent, MD, PhD, Holland, Steven M., MD, Doffinger, Rainer, PhD, FRCPath, Browne, Sarah K., MD, Chi, Chih-Yu, MD, PhD

Get full text