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

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Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study von Coulter, Tanya I., MRCPI, Chandra, Anita, PhD, FRCPath, Bacon, Chris M., PhD, FRCPath, Babar, Judith, MRCP, FRCR, Curtis, James, PhD, Screaton, Nick, FRCP, FRCR, Goodlad, John R., MD, FRCPath, Farmer, George, MD, Steele, Cathal Laurence, MB, Leahy, Timothy Ronan, MRCPI, Doffinger, Rainer, PhD, FRCPath, Baxendale, Helen, PhD, FRCPath, Bernatoniene, Jolanta, PhD, Edgar, J. David M., FRCP, FRCPath, Longhurst, Hilary J., PhD, FRCPath, Ehl, Stephan, MD, PhD, Speckmann, Carsten, MD, Grimbacher, Bodo, MD, PhD, Sediva, Anna, MD, PhD, Milota, Tomas, MD, Faust, Saul N., PhD, FRCPCH, Williams, Anthony P., PhD, FRCPath, Hayman, Grant, FRCP, FRCPath, Kucuk, Zeynep Yesim, MD, Hague, Rosie, MRCP, FRCPH, French, Paul, MD, MRCS, DipFMS, FRCPath, Brooker, Richard, FRCPCH, Forsyth, Peter, FRCPath, Herriot, Richard, FRCP, FRCPath, Cancrini, Caterina, MD, PhD, Palma, Paolo, MD, PhD, Ariganello, Paola, MD, Conlon, Niall, PhD, FRCPath, Feighery, Conleth, PhD, FRCPath, Gavin, Patrick J., MD, Jones, Alison, PhD, FRCPCH, Imai, Kohsuke, MD, PhD, Ibrahim, Mohammad A.A., PhD, FRCP, FRCPath, Markelj, Gašper, MD, Abinun, Mario, MD, PhD, Rieux-Laucat, Frédéric, PhD, Latour, Sylvain, PhD, Pellier, Isabelle, MD, PhD, Fischer, Alain, MD, PhD, Touzot, Fabien, MD, PhD, Casanova, Jean-Laurent, MD, PhD, Durandy, Anne, MD, PhD, Burns, Siobhan O., MD, PhD, Savic, Sinisa, PhD, FRCPath, Kumararatne, D.S., FRCPath, DPhil (Oxon), Moshous, Despina, MD, PhD, Kracker, Sven, PhD, Vanhaesebroeck, Bart, PhD, FMedSci, Okkenhaug, Klaus, PhD, Picard, Capucine, MD, PhD, Nejentsev, Sergey, MD, PhD, Condliffe, Alison M., PhD, FRCP, Cant, Andrew James, MD, FRCP, FRCPH

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Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection von 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

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Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2 von Klemann, Christian, Camacho-Ordonez, Nadezhda, Yang, Linlin, Eskandarian, Zoya, Rojas-Restrepo, Jessica L, Frede, Natalie, Bulashevska, Alla, Heeg, Maximilian, Al-Ddafari, Moudjahed Saleh, Premm, Julian, Seidl, Maximilian, Ammann, Sandra, Sherkat, Roya, Radhakrishnan, Nita, Warnatz, Klaus, Unger, Susanne, Kobbe, Robin, Hüfner, Anja, Leahy, T Ronan, Ip, Winnie, Burns, Siobhan O, Fliegauf, Manfred, Grimbacher, Bodo

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Inflammatory and Autoimmune Manifestations in X-linked carriers of Chronic Granulomatous Disease in the United Kingdom von Battersby, Alexandra C., PhD, Braggins, Helen, RSCN, Pearce, Mark S., PhD, Cale, Catherine M., PhD, Burns, Siobhan O., PhD, Hackett, Scott, MD, Hughes, Stephen, PhD, Barge, Dawn, PhD, Goldblatt, David, PhD, Gennery, Andrew R., MD

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Wiskott-Aldrich syndrome protein regulates autophagy and inflammasome activity in innate immune cells von Lee, Pamela P., Lobato-Márquez, Damián, Pramanik, Nayani, Sirianni, Andrea, Daza-Cajigal, Vanessa, Rivers, Elizabeth, Cavazza, Alessia, Bouma, Gerben, Moulding, Dale, Hultenby, Kjell, Westerberg, Lisa S., Hollinshead, Michael, Lau, Yu-Lung, Burns, Siobhan O., Mostowy, Serge, Bajaj-Elliott, Mona, Thrasher, Adrian J.

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Impact of vaccination on hospitalization and mortality from COVID-19 in patients with primary and secondary immunodeficiency: The United Kingdom experience von Shields, Adrian M, Tadros, Susan, Al-Hakim, Adam, Nell, Jeremy M, Lin, Me Me Nay, Chan, Michele, Goddard, Sarah, Dempster, John, Dziadzio, Magdalena, Patel, Smita Y, Elkalifa, Shuayb, Huissoon, Aarnoud, Duncan, Christopher J A, Herwadkar, Archana, Khan, Sujoy, Bethune, Claire, Elcombe, Suzanne, Thaventhiran, James, Klenerman, Paul, Lowe, David M, Savic, Sinisa, Burns, Siobhan O, Richter, Alex G

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LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia von 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

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Altered Microbiota, Impaired Quality of Life, Malabsorption, Infection, and Inflammation in CVID Patients With Diarrhoea von van Schewick, Cornelia M., Noeltner, Christina, Abel, Svenja, Burns, Siobhan O., Workman, Sarita, Symes, Andrew, Guzman, David, Proietti, Michele, Bulashevska, Alla, Moreira, Fernando, Soetedjo, Veronika, Lowe, David M., Grimbacher, Bodo

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The PID Odyssey 2030: outlooks, unmet needs, hurdles, and opportunities — proceedings from the IPOPI global multi-stakeholders’ summit (June 2022) von Tadros, Susan, Prévot, Johan, Meyts, Isabelle, Sánchez-Ramón, Silvia, Erwa, Nahla H., Fischer, Alain, Lefevre, Guillaume, Hotchko, Matthew, Jaworski, Peter M., Leavis, Helen, Boersma, Cornelis, Drabwell, Jose, van Hagen, Martin, Van Coillie, Samya, Pergent, Martine, Burns, Siobhan O., Mahlaoui, Nizar

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Investigating pulmonary and non-infectious complications in common variable immunodeficiency disorders: a UK national multi-centre study von Bintalib, Heba M, Grigoriadou, Sofia, Patel, Smita Y, Mutlu, Leman, Sooriyakumar, Kavitha, Vaitla, Prashantha, McDermott, Elizabeth, Drewe, Elizabeth, Steele, Cathal, Ahuja, Manisha, Garcez, Tomaz, Gompels, Mark, Grammatikos, Alexandros, Herwadkar, Archana, Ayub, Rehana, Halliday, Neil, Burns, Siobhan O, Hurst, John R, Goddard, Sarah

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Charting a course for global progress in PIDs by 2030 - proceedings from the IPOPI global multi-stakeholders' summit (September 2023) von Van Coillie, Samya, Prévot, Johan, Sánchez-Ramón, Silvia, Lowe, David M, Borg, Michael, Autran, Brigitte, Segundo, Gesmar, Pecoraro, Antonio, Garcelon, Nicolas, Boersma, Cornelis, Silva, Susana L, Drabwell, Jose, Quinti, Isabella, Meyts, Isabelle, Ali, Adli, Burns, Siobhan O, van Hagen, Martin, Pergent, Martine, Mahlaoui, Nizar

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Partial human Janus kinase 1 deficiency predominantly impairs responses to interferon gamma and intracellular control of mycobacteria von Daza-Cajigal, Vanessa, Albuquerque, Adriana S, Young, Dan F, Ciancanelli, Michael J, Moulding, Dale, Angulo, Ivan, Jeanne-Julien, Valentine, Rosain, Jérémie, Minskaia, Ekaterina, Casanova, Jean-Laurent, Boisson-Dupuis, Stéphanie, Bustamante, Jacinta, Randall, Richard E, McHugh, Timothy D, Thrasher, Adrian J, Burns, Siobhan O

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Is It Safe to Switch From Intravenous Immunoglobulin to Subcutaneous Immunoglobulin in Patients With Common Variable Immunodeficiency and Autoimmune Thrombocytopenia? von Scheuerlein, Philipp, Pietsch, Larissa, Camacho-Ordonez, Nadezhda, Reiser, Veronika, Patel, Smita, Burns, Siobhan O, Warnatz, Klaus, Grimbacher, Bodo

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An intronic deletion in megakaryoblastic leukemia 1 is associated with hyperproliferation of B cells in triplets with Hodgkin lymphoma von Record, Julien, Sendel, Anton, Kritikou, Joanna S., Kuznetsov, Nikolai, Brauner, Hanna, He, Minghui, Nagy, Noemi, Oliveira, Mariana M. S., Griseti, Elena, Haase, Christoph B., Dahlstrom, Jenny, Boddul, Sanjaykumar, Wermeling, Fredrik, Thrasher, Adrian J., Liu, Chaohong, Andersson, John, Claesson, Hans-Erik, Winqvist, Ola, Burns, Siobhan O., Bjorkholm, Magnus, Westerberg, Lisa S.

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Loss of Janus Associated Kinase 1 Alters Urothelial Cell Function and Facilitates the Development of Bladder Cancer von Daza-Cajigal, Vanessa, Albuquerque, Adriana S, Pearson, Joanna, Hinley, Jennifer, Mason, Andrew S, Stahlschmidt, Jens, Thrasher, Adrian J, Mishra, Vibhash, Southgate, Jennifer, Burns, Siobhan O

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WASP: a key immunological multitasker von Thrasher, Adrian J, Burns, Siobhan O

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How I manage patients with Wiskott Aldrich syndrome von Rivers, Elizabeth, Worth, Austen, Thrasher, Adrian J., Burns, Siobhan O.

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COVID-19 in patients with primary and secondary immunodeficiency: The United Kingdom experience von Shields, Adrian M., Burns, Siobhan O., Savic, Sinisa, Richter, Alex G., Anantharachagan, Ariharan, Arumugakani, Gururaj, Baker, Kenneth, Bahal, Sameer, Bermingham, William, Bhole, Malini, Boules, Evon, Bright, Philip, Burns, Siobhan, Cleave, Betsy, Dempster, John, Devlin, Lisa, Dhalla, Fatima, Drewe, Elizabeth, Duncan, Christopher, Dziadzio, Magdalena, Elkhalifa, Shuayb, Gennery, Andrew, Goddard, Sarah, Grigoriadou, Sofia, Hayman, Grant, Herwadkar, Archana, Huissoon, Aarnoud, Jain, Rashmi, Jolles, Stephen, Johnston, Sarah, Leeman, Lucy, Mahabir, Shanti, MacLochlainn, Dylan, McDermott, Elizabeth, Misbah, Siraj, Morsi, Hadeil, Murng, Sai, Noorani, Sadia, O’Brien, Rachael, Patel, Smita, Price, Arthur, Richter, Alex, Savic, Sinisa, Seneviratne, Suranjith, Shields, Adrian, Shrimpton, Anna, Stroud, Catherine, Vaitla, Prashantha, Verma, Nisha

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Managing Granulomatous-Lymphocytic Interstitial Lung Disease in Common Variable Immunodeficiency Disorders: e-GLILDnet International Clinicians Survey von van de Ven, Annick A. J. M., Alfaro, Tiago M., Robinson, Alexandra, Baumann, Ulrich, Bergeron, Anne, Burns, Siobhan O., Condliffe, Alison M., Fevang, Borre, Gennery, Andrew R., Haerynck, Filomeen, Jacob, Joseph, Jolles, Stephen, Malphettes, Marion, Meignin, Veronique, Milota, Tomas, van Montfrans, Joris, Prasse, Antje, Quinti, Isabella, Renzoni, Elisabetta, Stolz, Daiana, Warnatz, Klaus, Hurst, John R.

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