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by Coulter, Tanya I., MRCPI and Chandra, Anita, PhD, FRCPath and Bacon, Chris M., PhD, FRCPath and Babar, Judith, MRCP, FRCR and Curtis, James, PhD and Screaton, Nick, FRCP, FRCR and Goodlad, John R., MD, FRCPath and Farmer, George, MD and Steele, Cathal Laurence, MB and Leahy, Timothy Ronan, MRCPI and Doffinger, Rainer, PhD, FRCPath and Baxendale, Helen, PhD, FRCPath and Bernatoniene, Jolanta, PhD and Edgar, J. David M., FRCP, FRCPath and Longhurst, Hilary J., PhD, FRCPath and Ehl, Stephan, MD, PhD and Speckmann, Carsten, MD and Grimbacher, Bodo, MD, PhD and Sediva, Anna, MD, PhD and Milota, Tomas, MD and Faust, Saul N., PhD, FRCPCH and Williams, Anthony P., PhD, FRCPath and Hayman, Grant, FRCP, FRCPath and Kucuk, Zeynep Yesim, MD and Hague, Rosie, MRCP, FRCPH and French, Paul, MD, MRCS, DipFMS, FRCPath and Brooker, Richard, FRCPCH and Forsyth, Peter, FRCPath and Herriot, Richard, FRCP, FRCPath and Cancrini, Caterina, MD, PhD and Palma, Paolo, MD, PhD and Ariganello, Paola, MD and Conlon, Niall, PhD, FRCPath and Feighery, Conleth, PhD, FRCPath and Gavin, Patrick J., MD and Jones, Alison, PhD, FRCPCH and Imai, Kohsuke, MD, PhD and Ibrahim, Mohammad A.A., PhD, FRCP, FRCPath and Markelj, Gašper, MD and Abinun, Mario, MD, PhD and Rieux-Laucat, Frédéric, PhD and Latour, Sylvain, PhD and Pellier, Isabelle, MD, PhD and Fischer, Alain, MD, PhD and Touzot, Fabien, MD, PhD and Casanova, Jean-Laurent, MD, PhD and Durandy, Anne, MD, PhD and Burns, Siobhan O., MD, PhD and Savic, Sinisa, PhD, FRCPath and Kumararatne, D.S., FRCPath, DPhil (Oxon) and Moshous, Despina, MD, PhD and Kracker, Sven, PhD and Vanhaesebroeck, Bart, PhD, FMedSci and Okkenhaug, Klaus, PhD and Picard, Capucine, MD, PhD and Nejentsev, Sergey, MD, PhD and Condliffe, Alison M., PhD, FRCP and Cant, Andrew James, MD, FRCP, FRCPH
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 139, Issue 2, pp. 597 - 606.e4
Background Activated phosphoinositide 3-kinase δ syndrome (APDS) is a recently described combined immunodeficiency resulting from gain-of-function mutations in... 
Allergy and Immunology | Activated phosphoinositide 3-kinase δ syndrome | hematopoietic stem cell transplantation | phosphoinositide 3-kinase δ | immunodeficiency | phosphoinositide 3-kinase inhibitor | PIK3CD gene | bronchiectasis | p110δ-activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency | Activated phosphoinositide 3-kinase delta syndrome | IMMUNOLOGICAL FEATURES | HYPER-IGM SYNDROME | p110 delta-activating mutation causing senescent T cells | hematopoietic stem cell | COMMON VARIABLE IMMUNODEFICIENCY | PIK3CD | IMMUNOLOGY | lymphadenopathy | REFERENCE VALUES | P110-DELTA | CT | phosphoinositide 3-kinase delta | P110 DELTA | B-CELL | ALLERGY | transplantation | MUTATIONS | Recurrence | Class I Phosphatidylinositol 3-Kinases - genetics | Herpesviridae Infections - mortality | Humans | Middle Aged | Child, Preschool | Infant | Male | Antibiotic Prophylaxis | Respiratory Tract Infections - genetics | Lymphoproliferative Disorders - therapy | Young Adult | Respiratory Tract Infections - mortality | Respiratory Tract Infections - therapy | Immunologic Deficiency Syndromes - mortality | Adult | Female | Surveys and Questionnaires | Herpesviridae Infections - genetics | Child | Immunologic Deficiency Syndromes - therapy | Hematopoietic Stem Cell Transplantation | International Cooperation | Lymphoproliferative Disorders - genetics | Mutation - genetics | Class I Phosphatidylinositol 3-Kinases - antagonists & inhibitors | Enzyme Inhibitors - therapeutic use | Lymphoproliferative Disorders - mortality | Animals | Herpesviridae Infections - therapy | Immunoglobulins, Intravenous - therapeutic use | Adolescent | Survival Analysis | Immunologic Deficiency Syndromes - genetics | Mice | Cohort Studies | Immune Deficiencies, Infection, and Systemic Immune Disorders | HSCT, Hematopoietic stem cell transplantation | BALF, Bronchoalveolar lavage fluid | CT, Computed tomography | APDS, Activated phosphoinositide-3 kinase δ syndrome | GOF, Gain of function | PI3K, Phosphoinositide 3-kinase | HSV, Herpes simplex virus | CMV, Cytomegalovirus | OR, Odds ratio | PPV, Pneumococcal polysaccharide vaccine | CNS, Central nervous system
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2012, Volume 130, Issue 6, pp. 1428 - 1432
Journal Article
Journal Article
by Guo, Shengwen and Lai, Chunren and Wu, Congling and Cen, Guiyin and Hariharan, A and Vijayakumari, Anupa A and Aarabi, Mohammad Hadi and Aballi, John and Nour, Abd Elazeim Abd Alla Mohamed and Abdelaziz, Mohammed and Abdolalizadeh, AmirHussein and Abdollahi, Mahsa and Abdul Aziz, Siti Aishah and Salam, Amritha Abdul and Abdulaziz, Nidhal and Abdulkadir, Ahmed and Abdullah, Sachal and Abdullah, Osama and Abrigo, Jill and Adachi, Noriaki and Adamson, Christopher and Adduru, Viraj and Adel, Tameem and Aderghal, Karim and Ades-Aron, Benjamin and Adeyosoye, Michael and Adlard, Paul and Srinivasa, Ag and Aganj, Iman and Agarwal, Ayush and Agarwal, Anupam and Agarwal, Anchit and Aguero, Cinthya and Aguiar, Pablo and Ahdidan, Jamila and Ahmad, Fayyaz and Ahmad, Rziwan and Ahmadi, Hessam and Ahmed, Nisar and Sid, Farid Ahmed and Ai, Edward and Ai, Qing and Aicha, Benyahia and Aitharaju, Sai and Aiyer, Aditya and Akkus, Zeynettin and Akodad, Sanae and Akramifard, Hamid and Aksman, Leon and Aktas, Said and Al-Janabi, Omar and Al-Nuaimi, Ali and AlAila, BahaaEddin and Alakwaa, Fadhl and Alam, Saruar and Alam, Fakhre and Alam Zaidi, Syed Farhan and Alan, Wiener and Alansari, Mukhtar and Alareqi, Ebrahim and Alberdi, Ane and Albsoul, Mohammad and Alderson, Thomas and Aleem, Hassan and Alex, Aishwarya and Alexander, Jacob and Alexopoulos, Panagiotis and Alfoldi, Jessica and Ali, Ayesha and Ali, Imdad and Alimoradian, Shirin and Aljabar, Paul and Aljabbouli, Hasan and Aljovic, Almir and Allen, Genevera and Alliende, Luz Maria and Almaguel, Frankis and Almgren, Hannes and Montes, Carmen Alonso and Alowaisheq, Tasneem and Alryalat, Saif Aldeen and Alsado, Majd and Alsaedi, Abdalrahman and Alshehri, Haifa and Altaf, Tooba and Altendahl, Marie and Altmann, Ane and Alvand, Ashkan and Filho, Manoel Alves and Alzubi, Raid and Amaral, Robert and Ambatipudi, Mythri and Amernath, Remya and Amlien, Inge and Amoroso, Nicola and Amri, Hakima and Anastasiou, Athanasios and Anbarasi, Jani and Anbarjafari, Gholamreza and Anderson, Wes and ... and Alzheimer's Dis Neuroimaging and Alzheimer's Disease Neuroimaging Initiative and The Alzheimer's Disease Neuroimaging Initiative
Frontiers in aging neuroscience, ISSN 1663-4365, 2017, Volume 9, Issue MAY, p. 146
Journal Article