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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 | 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 Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2014, Volume 134, Issue 1, pp. 116 - 126.e11
Background Common variable immunodeficiency (CVID) is an antibody deficiency with an equal sex distribution and a high variability in clinical presentation.... 
Allergy and Immunology | patient self-reported outcomes | treatment | Common variable immunodeficiency | primary antibody deficiency | autoimmunity | enteropathy | immunoglobulin replacement | quality of life | lymphadenopathy | granulomas | INFECTIONS | PHENOTYPES | IMMUNOLOGY | DEFICIENCY | IGM | TRIAL | B-CELL | ALLERGY | HYPOGAMMAGLOBULINEMIA | INTRAVENOUS IMMUNOGLOBULIN | DISEASE | Autoimmunity | Common Variable Immunodeficiency - immunology | Common Variable Immunodeficiency - drug therapy | Humans | Child, Preschool | Lymphoproliferative Disorders - complications | Male | Lymphoproliferative Disorders - immunology | Splenomegaly - pathology | Bronchiectasis - pathology | Common Variable Immunodeficiency - mortality | Pneumonia - mortality | Pneumonia - immunology | Adult | Female | Retrospective Studies | Child | Europe | Delayed Diagnosis | Common Variable Immunodeficiency - complications | Lymphoproliferative Disorders - mortality | Pneumonia - drug therapy | Immunoglobulins, Intravenous - therapeutic use | Adolescent | Age of Onset | Survival Analysis | Pneumonia - complications | Lymphoproliferative Disorders - drug therapy | Immunological deficiency syndromes | Care and treatment | Health aspects | Respiratory tract diseases | Studies | Pneumonia | Meningitis | Lymphomas | Multivariate analysis | Patients | Age | Data bases
Journal Article
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