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Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 138, Issue 1, pp. 210 - 218.e9
Background Activated phosphoinositide 3-kinase δ syndrome (APDS) 2 (p110δ-activating mutations causing senescent T cells, lymphadenopathy, and immunodeficiency... 
Allergy and Immunology | and immunodeficiency | p110δ-activating mutations causing senescent T cells | hyper-IgM | adenopathy | p110δ | activated phosphoinositide 3-kinase δ syndrome | p85α | antibody deficiency | immunodeficiency | lymphadenopathy | phosphoinositide 3-kinase | Primary immunodeficiency | Class I Phosphatidylinositol 3-Kinases/genetics | RNA Splice Sites | Gene Frequency | Humans | Middle Aged | Immunologic Deficiency Syndromes/diagnosis | Child, Preschool | Genotype | Male | Young Adult | CD8-Positive T-Lymphocytes/immunology | Phenotype | T-Lymphocyte Subsets/immunology | Biopsy | Adolescent | Alleles | Adult | Female | Mutation | Child | Cohort Studies | p110 delta-activating mutations causing senescent T cells | CELLS | HUMAN IMMUNODEFICIENCY | KINASE | p85 alpha | IMMUNOLOGY | p110 delta | ALLERGY | MUTATIONS | activated phosphoinositide 3-kinase delta syndrome | T-Lymphocyte Subsets - immunology | Class I Phosphatidylinositol 3-Kinases - genetics | Immunologic Deficiency Syndromes - etiology | Immunologic Deficiency Syndromes - mortality | CD8-Positive T-Lymphocytes - metabolism | Immunologic Deficiency Syndromes - diagnosis | T-Lymphocyte Subsets - metabolism | CD8-Positive T-Lymphocytes - immunology | Life Sciences | Human health and pathology | Economics and Finance | Psychology | Santé publique et épidémiologie | Humanities and Social Sciences | Psychiatrics and mental health
Journal Article
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 | Recurrence | Humans | Middle Aged | Child, Preschool | Infant | Male | Antibiotic Prophylaxis | Class I Phosphatidylinositol 3-Kinases/antagonists & inhibitors | Young Adult | Immunoglobulins, Intravenous/therapeutic use | Enzyme Inhibitors/therapeutic use | Lymphoproliferative Disorders/genetics | Adult | Female | Surveys and Questionnaires | Child | Respiratory Tract Infections/genetics | Mutation/genetics | Hematopoietic Stem Cell Transplantation | International Cooperation | Herpesviridae Infections/genetics | Animals | Adolescent | Survival Analysis | Mice | Immunologic Deficiency Syndromes/genetics | Cohort Studies | 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 | phosphoinositide 3-kinase delta | P110 DELTA | B-CELL | ALLERGY | transplantation | MUTATIONS | Class I Phosphatidylinositol 3-Kinases - genetics | Herpesviridae Infections - mortality | Respiratory Tract Infections - genetics | Lymphoproliferative Disorders - therapy | Respiratory Tract Infections - mortality | Respiratory Tract Infections - therapy | Immunologic Deficiency Syndromes - mortality | Herpesviridae Infections - genetics | Immunologic Deficiency Syndromes - therapy | Lymphoproliferative Disorders - genetics | Mutation - genetics | Class I Phosphatidylinositol 3-Kinases - antagonists & inhibitors | Enzyme Inhibitors - therapeutic use | Lymphoproliferative Disorders - mortality | Herpesviridae Infections - therapy | Immunoglobulins, Intravenous - therapeutic use | Immunologic Deficiency Syndromes - genetics | 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, 2014, Volume 134, Issue 1, pp. 233 - 236.e3
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2012, Volume 130, Issue 6, pp. 1428 - 1432
Journal Article
Journal Article
Nature Communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 3174 - 16
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by Freitag, Christine and Butterworth, Adam and Willeit, Johann and Howson, Joanna M.M and Burgess, Stephen and Kaptoge, Stephen and Young, Robin and Ho, Weang Kee and Wood, Angela and Sweeting, Michael and Spackman, Sarah and Staley, James R and Ramond, Anna and Harshfield, Eric and Nielsen, Sune and Grande, Peer and Lange, Leslie and Bown, Matthew and Jones, Gregory and Scott, Robert and Bevan, Steve and Porcu, Eleonora and Thorleifsson, Gudmar and Zeng, Lingyao and Kessler, Thorsten and Nikpay, Majid and Do, Ron and Zhang, Weihua and Hopewell, J and Kleber, Marcus and Delgado, G and Nelson, Christopher P and Goel, Anuj and Bis, Joshua and Dehghan, Abbas and Ligthart, Symen and Smith, Davey and Qu, Liming and Van 'T Hof, Femke and Bakker, Paul and Baas, Annette and Rij, Ane and Tromp, Gerard and Kuivaniemi, Helena and Ritchie, Marylyn D and Verma, Shefali S and Crawford, Dana and Malinowski, Jennifer and Anade, Mariza and Kullo, Iftikhar and Peissig, Peggy L and McCarty, Catherine A and Bottinger, Erwin and Gottesman, Rebecca and Crosslin, David and Carrell, David and Rasmussen-Torvik, Laura and Pacheco, Jennifer A and Huang, Jie and Timpson, Nicholas and Kettunen, Johannes and Ala-Korpela, Mika and Mitchell, Gary and Parsa, Afshin and Wilkinson, Ian B and Gorski, Mathias and Li, Yong and Franceschini, Nora and Keller, Margaux and Ganesh, Santhi and Langefeld, Carl and Bruijn, Lucie and Brown, Matthew and Evans, David M and Baltic, Svetlana and Ferreira, Manuel and Baurecht, Hansjörg and Weidinger, Stephan and Franke, Ane and Lubitz, Steven and Müller-Nurasyid, Martina and Felix, Janine and Smith, Nicholas and Sudman, Marc and Thompson, Susan D and Zeggini, Eleftheria and Panoutsopoulou, Kalliope and Nalls, Michael and Singleton, Anew and Polychronakos, Constantin and Bradfield, Jonathan and Hakonarson, Hakon and Easton, Douglas and Thompson, Deborah and Tomlinson, Ian and Dunlop, Malcolm and Hemminki, Kari and Morgan, Gareth and Eisen, Timothy and Goldschmidt, Hartmut and ... and Australo-Anglo-Amer Spondyloarthri and Chronic Kidney Dis Genetics Consor and Australian Asthma Genetics Consort and Breast Canc Assoc Consortium and Interleukin 1 Genetics Consortium and Aneurysm Consortium and European Prospective Invest Canc and Consortium Juvenile Arthritis Gene and Melanoma Genetics Consortium and Int Parkinson's Dis Consortium and UK 10K Consortium and Myocardial Infarction Genetics Con and Elect Med Records & Genomics Netwo and Arthritis Res UK Osteoarthritis Ge and Atrial Fribrillation Genetics Cons and METASTROKE Consortium and Cohorts Heart & Aging Res Genomic and Family Medicine and Clinical Epidemiology and EpiHealth: Epidemiology for Health and Lund University and Allmänmedicin och klinisk epidemiologi and Lunds universitet
Lancet Diabetes & Endocrinology, The, ISSN 2213-8587, 2015, Volume 3, Issue 4, pp. 243 - 253
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