Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study
Journal of Allergy and Clinical Immunology2016Vol. 139(2), pp. 597–606.e4
Citations Over TimeTop 1% of 2016 papers
Tanya Coulter, Anita Chandra, Chris M. Bacon, Judith Babar, James Curtis, Nick Screaton, John R. Goodlad, George E. Farmer, Cathal Steele, Timothy Ronan Leahy, Rainer Döffinger, Helen Baxendale, Jolanta Bernatoniene, David Edgar, Hilary Longhurst, Stephan Ehl, Carsten Speckmann, Bodo Grimbacher, Anna Šedivá, Tomáš Milota, Saul N. Faust, Anthony P. Williams, Grant Hayman, Zeynep Yesim Kucuk, Rosie Hague, Paul French, Richard Brooker, Peter Forsyth, Richard Herriot, Caterina Cancrini, Paolo Palma, Paola Ariganello, Niall Conlon, Conleth Feighery, Patrick J. Gavin, Alison Jones, Kohsuke Imai, Mohammad A. A. Ibrahim, Gašper Markelj, Mario Abinun, Frédéric Rieux‐Laucat, Sylvain Latour, Isabelle Pellier, Alain Fischer, Fabien Touzot, Jean‐Laurent Casanova, Anne Durandy, Siobhan O. Burns, Sinisa Savic, Dinakantha Kumararatne, Despina Moshous, Sven Kracker, Bart Vanhaesebroeck, Klaus Okkenhaug, Capucine Pïcard, Sergey Nejentsev, Alison M. Condliffe, Andrew J. Cant
Abstract
APDS is a combined immunodeficiency with multiple clinical manifestations, many with incomplete penetrance and others with variable expressivity. The severity of complications in some patients supports consideration of hematopoietic stem cell transplantation for severe childhood disease. Clinical trials of selective PI3Kδ inhibitors offer new prospects for APDS treatment.
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