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Blood, ISSN 0006-4971, 01/2015, Volume 125, Issue 4, pp. 591 - 599
Journal Article
Leukemia, ISSN 0887-6924, 2012, Volume 26, Issue 10, pp. 2159 - 2171
Journal Article
Blood, ISSN 0006-4971, 2013, Volume 121, Issue 11, pp. 2051 - 2058
Journal Article
Journal Article
Blood, ISSN 0006-4971, 03/2013, Volume 121, Issue 13, pp. 2522 - 2528
Journal Article
Blood, ISSN 0006-4971, 10/2012, Volume 120, Issue 15, pp. 3048 - 3057
Journal Article
Journal of Experimental Medicine, ISSN 0022-1007, 2014, Volume 211, Issue 13, pp. 2537 - 2547
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 | 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
Annual Review of Immunology, ISSN 0732-0582, 3/2015, Volume 33, Issue 1, pp. 823 - 874
Patients with autoinflammatory diseases present with noninfectious fever flares and systemic and or disease-specific organ inflammation. Their excessive... 
IL-1-mediated autoinflammatory diseases | hereditary fever syndromes | cryopyrin-associated periodic syndromes | inflammasomes in human disease | autoinflammatory diseases | macrophage activation syndrome | IFN-mediated autoinflammatory diseases | proteasome-associated autoinflammatory syndromes | Cryopyrin-associated periodic syndromes | Proteasome-associated autoinflammatory syndromes | Autoinflammatory diseases | Inflammasomes in human disease | Hereditary fever syndromes | Macrophage activation syndrome | RECURRENT MULTIFOCAL OSTEOMYELITIS | CYCLIC GMP-AMP | JUVENILE IDIOPATHIC ARTHRITIS | IMMUNOLOGY | CONGENITAL DYSERYTHROPOIETIC ANEMIA | ENCODING MEVALONATE KINASE | FAMILIAL MEDITERRANEAN FEVER | GAIN-OF-FUNCTION | IL-I-mediated autoinflammatory diseases | PEDIATRIC GRANULOMATOUS ARTHRITIS | IFN-mediated autoinflammatorv diseases | NF-KAPPA-B | Autoimmunity | Humans | NF-kappa B - metabolism | Lymphoproliferative Disorders - immunology | Lymphoproliferative Disorders - metabolism | Autoimmune Diseases - genetics | Inflammation - metabolism | Inflammation Mediators - metabolism | Immunologic Deficiency Syndromes - immunology | Autoimmune Diseases - metabolism | Macrophages - immunology | Disease Models, Animal | Interleukin-1 - metabolism | Genetic Predisposition to Disease | Signal Transduction | Macrophage Activation - immunology | Autoimmune Diseases - immunology | Inflammation - immunology | Lymphoproliferative Disorders - genetics | Immunity, Innate | Macrophages - metabolism | Animals | Immunologic Deficiency Syndromes - genetics | Immunologic Deficiency Syndromes - metabolism | Inflammation - genetics | Interferons - metabolism | Genetic research | Genetic aspects | Inflammation | Cellular signal transduction | Research | Autoimmune diseases | Gene expression | Immunological research
Journal Article