Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study
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
Published in Journal of allergy and clinical immunology (01.02.2017)
Published in Journal of allergy and clinical immunology (01.02.2017)
Get full text
Journal Article
Allogeneic hematopoietic stem cell transplantation outcome in oldest known surviving patients with Wiskott-Aldrich syndrome
Anantharachagan, Ariharan, Loh, Sook Yin, Burns, Siobhan O., Laurence, Arian, Tadros, Susan, Tholouli, Eleni, Lwin, Yadanar, Martinez-Calle, Nicolas, Vaitla, P., Morris, Emma C.
Published in The journal of allergy and clinical immunology. Global (01.02.2024)
Published in The journal of allergy and clinical immunology. Global (01.02.2024)
Get full text
Journal Article
LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia
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
Published in Journal of allergy and clinical immunology (01.12.2012)
Published in Journal of allergy and clinical immunology (01.12.2012)
Get full text
Journal Article
Common variable immunodeficiency and natural killer cell lymphopenia caused by Ets-binding site mutation in the IL-2 receptor γ ( IL2RG ) gene promoter
Chandra, Anita, MRCP, FRCPath, PhD, Zhang, Fang, PhD, Gilmour, Kimberly C., FRCPath, PhD, Webster, David, FRCPath, Plagnol, Vincent, PhD, Kumararatne, Dinakantha S., FRCPath, DPhil, Burns, Siobhan O., MB, PhD, MRCPI(Paeds), Nejentsev, Sergey, MD, PhD, Thrasher, Adrian J., MRCP, PhD
Published in Journal of allergy and clinical immunology (01.03.2016)
Published in Journal of allergy and clinical immunology (01.03.2016)
Get full text
Journal Article
Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ
Burns, Siobhan O., MD, PhD, Plagnol, Vincent, PhD, Gutierrez, Beatriz Morillo, MD, Al Zahrani, Daifulah, MD, Curtis, James, BSc, Gaspar, Miguel, PhD, Hassan, Amel, MD, Jones, Alison M., MD, Malone, Marian, MD, Rampling, Dyanne, FIBMS, McLatchie, Alex, BSc, Doffinger, Rainer, PhD, Gilmour, Kimberly C., PhD, Henriquez, Frances, MSc, Thrasher, Adrian J., MD, PhD, Gaspar, H. Bobby, MD, PhD, Nejentsev, Sergey, MD, PhD
Published in Journal of allergy and clinical immunology (01.07.2014)
Published in Journal of allergy and clinical immunology (01.07.2014)
Get full text
Journal Article