1773. Complement level measurements for children in England suggest a possible unreported Post Streptococcal Glomerulonephritis Outbreak

por Dale, Rachel, Manson, Ania, Mok, Hoi-Ping, Kumararatne, Dinakantha, Gkrania-Klotsas, Effrossyni
Publicado 2023

Respiratory infectious burden in a cohort of antibody deficiency patients treated with immunoglobulin replacement therapy: The impact of lung pathology and gastroesophageal reflux...

por Cutajar, Jonathan, Gkrania-Klotsas, Effrossyni, Sander, Clare, Floto, Andres, Chandra, Anita, Manson, Ania, Kumararatne, Dinakantha
Publicado 2023

Diminished seroconversion following a single SARS-COV-2 vaccine in ocrelizumab-treated relapsing-remitting multiple sclerosis patients

por Georgieva, Zoya G, Dӧffinger, Rainer, Kumararatne, Dinakantha, Coles, Alasdair J, McCarthy, Claire
Publicado 2021

Rituximab Associated Hypogammaglobulinemia in Autoimmune Disease

por Tieu, Joanna, Smith, Rona M., Gopaluni, Seerapani, Kumararatne, Dinakantha S., McClure, Mark, Manson, Ania, Houghton, Sally, Jayne, David R. W.
Publicado 2021

Common variable immunodeficiency and natural killer cell lymphopenia caused by Ets-binding site mutation in the IL-2 receptor γ (IL2RG) gene promoter

por Chandra, Anita, Zhang, Fang, Gilmour, Kimberly C., Webster, David, Plagnol, Vincent, Kumararatne, Dinakantha S., Burns, Siobhan O., Nejentsev, Sergey, Thrasher, Adrian J.
Publicado 2016

Prescribing Immunoglobulin Replacement Therapy for Patients with Non-classical and Secondary Antibody Deficiency: an Analysis of the Practice of Clinical Immunologists in the UK an...

por Edgar, John David M., Richter, Alex G., Huissoon, Aarnoud P., Kumararatne, Dinakantha S., Baxendale, Helen E., Bethune, Claire A., Garcez, Tomaz, Misbah, Siraj A., Sorensen, Ricardo U.
Publicado 2018

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

por Plagnol, Vincent, Curtis, James, Epstein, Michael, Mok, Kin Y., Stebbings, Emma, Grigoriadou, Sofia, Wood, Nicholas W., Hambleton, Sophie, Burns, Siobhan O., Thrasher, Adrian J., Kumararatne, Dinakantha, Doffinger, Rainer, Nejentsev, Sergey
Publicado 2012

Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection

por 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
Publicado 2016

Novel PLCG2 Mutation in a Patient With APLAID and Cutis Laxa

por 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
Publicado 2018

Towards a safety net for management of 22q11.2 deletion syndrome: guidelines for our times

por Habel, Alex, Herriot, Richard, Kumararatne, Dinakantha, Allgrove, Jeremy, Baker, Kate, Baxendale, Helen, Bu’Lock, Frances, Firth, Helen, Gennery, Andrew, Holland, Anthony, Illingworth, Claire, Mercer, Nigel, Pannebakker, Merel, Parry, Andrew, Roberts, Anne, Tsai-Goodman, Beverly
Publicado 2014

ADA2 deficiency complicated by EBV-driven lymphoproliferative disease

por Staples, Emily, Simeoni, Ilenia, Stephens, Jonathan C., Allen, Hana Lango, Wright, Penny, Davies, E. Graham, Javid, Babak, Gkrania-Klotsas, Effrossyni, Gattens, Michael, Firth, Helen, Shamardina, Olga, Deevi, Sri V.V., Prapa, Matina, Uttenthal, Ben, Kumararatne, Dinakantha, Thaventhiran, James E.D.
Publicado 2020

The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency

por 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
Publicado 2011

Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I

por Puel, Anne, Döffinger, Rainer, Natividad, Angels, Chrabieh, Maya, Barcenas-Morales, Gabriela, Picard, Capucine, Cobat, Aurélie, Ouachée-Chardin, Marie, Toulon, Antoine, Bustamante, Jacinta, Al-Muhsen, Saleh, Al-Owain, Mohammed, Arkwright, Peter D., Costigan, Colm, McConnell, Vivienne, Cant, Andrew J., Abinun, Mario, Polak, Michel, Bougnères, Pierre-François, Kumararatne, Dinakantha, Marodi, László, Nahum, Amit, Roifman, Chaim, Blanche, Stéphane, Fischer, Alain, Bodemer, Christine, Abel, Laurent, Lilic, Desa, Casanova, Jean-Laurent
Publicado 2010

The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1

por Depner, Mark, Fuchs, Sebastian, Raabe, Jan, Frede, Natalie, Glocker, Cristina, Doffinger, Rainer, Gkrania-Klotsas, Effrossyni, Kumararatne, Dinakantha, Atkinson, T. Prescott, Schroeder, Harry W., Niehues, Tim, Dückers, Gregor, Stray-Pedersen, Asbjørg, Baumann, Ulrich, Schmidt, Reinhold, Franco, Jose L., Orrego, Julio, Ben-Shoshan, Moshe, McCusker, Christine, Jacob, Cristina Miuki Abe, Carneiro-Sampaio, Magda, Devlin, Lisa A., Edgar, J. David M., Henderson, Paul, Russell, Richard K., Skytte, Anne-Bine, Seneviratne, Suranjith L., Wanders, Jennifer, Stauss, Hans, Meyts, Isabelle, Moens, Leen, Jesenak, Milos, Kobbe, Robin, Borte, Stephan, Borte, Michael, Wright, Dowain A., Hagin, David, Torgerson, Troy R., Grimbacher, Bodo
Publicado 2015

Low Penetrance, Broad Resistance, and Favorable Outcome of Interleukin 12 Receptor β1 Deficiency: Medical and Immunological Implications

por Fieschi, Claire, Dupuis, Stéphanie, Catherinot, Emilie, Feinberg, Jacqueline, Bustamante, Jacinta, Breiman, Adrien, Altare, Frédéric, Baretto, Richard, Le Deist, Françoise, Kayal, Samer, Koch, Hartmut, Richter, Darko, Brezina, Martin, Aksu, Guzide, Wood, Phil, Al-Jumaah, Suliman, Raspall, Miquel, da Silva Duarte, Alberto José, Tuerlinckx, David, Virelizier, Jean-Louis, Fischer, Alain, Enright, Andrea, Bernhöft, Jutta, Cleary, Aileen M., Vermylen, Christiane, Rodriguez-Gallego, Carlos, Davies, Graham, Blütters-Sawatzki, Renate, Siegrist, Claire-Anne, Ehlayel, Mohammad S., Novelli, Vas, Haas, Walther H., Levy, Jacob, Freihorst, Joachim, Al-Hajjar, Sami, Nadal, David, de Moraes Vasconcelos, Dewton, Jeppsson, Olle, Kutukculer, Necil, Frecerova, Klara, Caragol, Isabel, Lammas, David, Kumararatne, Dinakantha S., Abel, Laurent, Casanova, Jean-Laurent
Publicado 2003

Inherited IL-12p40 Deficiency: Genetic, Immunologic, and Clinical Features of 49 Patients From 30 Kindreds

por Prando, Carolina, Samarina, Arina, Bustamante, Jacinta, Boisson-Dupuis, Stéphanie, Cobat, Aurelie, Picard, Capucine, AlSum, Zobaida, Al-Jumaah, Suliman, Al-Hajjar, Sami, Frayha, Husn, Al-Mousa, Hamoud, Ben-Mustapha, Imen, Adimi, Parisa, Feinberg, Jacqueline, de Suremain, Maylis, Jannière, Lucile, Filipe-Santos, Orchidée, Mansouri, Nahal, Stephan, Jean-Louis, Nallusamy, Revathy, Kumararatne, Dinakantha S., Bloorsaz, Mohamad Reza, Ben-Ali, Meriem, Elloumi-Zghal, Houda, Chemli, Jalel, Bouguila, Jihene, Bejaoui, Mohamed, Alaki, Emadia, AlFawaz, Tariq S., Al Idrissi, Eman, ElGhazali, Gehad, Pollard, Andrew J., Murugasu, Belinda, Wah Lee, Bee, Halwani, Rabih, Al-Zahrani, Mohammed, Al Shehri, Mohammed A., Al-Zahrani, Mofareh, Bin-Hussain, Ibrahim, Mahdaviani, Seyed Alireza, Parvaneh, Nima, Abel, Laurent, Mansouri, Davood, Barbouche, Ridha, Al-Muhsen, Saleh, Casanova, Jean-Laurent
Publicado 2013

Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syn...

por Maccari, Maria Elena, Abolhassani, Hassan, Aghamohammadi, Asghar, Aiuti, Alessandro, Aleinikova, Olga, Bangs, Catherine, Baris, Safa, Barzaghi, Federica, Baxendale, Helen, Buckland, Matthew, Burns, Siobhan O., Cancrini, Caterina, Cant, Andrew, Cathébras, Pascal, Cavazzana, Marina, Chandra, Anita, Conti, Francesca, Coulter, Tanya, Devlin, Lisa A., Edgar, J. David M., Faust, Saul, Fischer, Alain, Garcia-Prat, Marina, Hammarström, Lennart, Heeg, Maximilian, Jolles, Stephen, Karakoc-Aydiner, Elif, Kindle, Gerhard, Kiykim, Ayca, Kumararatne, Dinakantha, Grimbacher, Bodo, Longhurst, Hilary, Mahlaoui, Nizar, Milota, Tomas, Moreira, Fernando, Moshous, Despina, Mukhina, Anna, Neth, Olaf, Neven, Benedicte, Nieters, Alexandra, Olbrich, Peter, Ozen, Ahmet, Pachlopnik Schmid, Jana, Picard, Capucine, Prader, Seraina, Rae, William, Reichenbach, Janine, Rusch, Stephan, Savic, Sinisa, Scarselli, Alessia, Scheible, Raphael, Sediva, Anna, Sharapova, Svetlana O., Shcherbina, Anna, Slatter, Mary, Soler-Palacin, Pere, Stanislas, Aurelie, Suarez, Felipe, Tucci, Francesca, Uhlmann, Annette, van Montfrans, Joris, Warnatz, Klaus, Williams, Anthony Peter, Wood, Phil, Kracker, Sven, Condliffe, Alison Mary, Ehl, Stephan
Publicado 2018

Whole genome sequencing of a sporadic primary immunodeficiency cohort

por Thaventhiran, James E. D., Allen, Hana Lango, Burren, Oliver S., Rae, William, Greene, Daniel, Staples, Emily, Zhang, Zinan, Farmery, James H. R., Simeoni, Ilenia, Rivers, Elizabeth, Maimaris, Jesmeen, Penkett, Christopher J, Stephens, Jonathan, Deevi, Sri V.V., Sanchis-Juan, Alba, Gleadall, Nicholas S, Thomas, Moira J., Sargur, Ravishankar B., Gordins, Pavels, Baxendale, Helen E., Brown, Matthew, Tuijnenburg, Paul, Worth, Austen, Hanson, Steven, Linger, Rachel, Buckland, Matthew S., Rayner-Matthews, Paula J., Gilmour, Kimberly C., Samarghitean, Crina, Seneviratne, Suranjith L., Sansom, David M., Lynch, Andy G., Megy, Karyn, Ellinghaus, Eva, Ellinghaus, David, Jorgensen, Silje F., Karlsen, Tom H, Stirrups, Kathleen E., Cutler, Antony J., Kumararatne, Dinakantha S., Chandra, Anita, Edgar, J. David M., Herwadkar, Archana, Cooper, Nichola, Grigoriadou, Sofia, Huissoon, Aarnoud, Goddard, Sarah, Jolles, Stephen, Schuetz, Catharina, Boschann, Felix, Lyons, Paul A., Hurles, Matthew E., Savic, Sinisa, Burns, Siobhan O., Kuijpers, Taco W., Turro, Ernest, Ouwehand, Willem H., Thrasher, Adrian J., Smith, Kenneth G. C.
Publicado 2020