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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 of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 138, Issue 3, pp. 814 - 824.e11
Background Respiratory syncytial virus (RSV) is a major health care burden with a particularly high worldwide morbidity and mortality rate among infants. Data... 
Allergy and Immunology | Group 2 innate lymphoid cells | thymic stromal lymphopoietin | IL-13 | type 2 immunity (TH2) | IL-33 | respiratory syncytial virus | type 2 immunity (T | AIRWAY EPITHELIAL-CELLS | ALLERGIC INFLAMMATION | DEXAMETHASONE | type 2 immunity (T(H)2) | TSLP | IL-25 | IMMUNOLOGY | HYPERRESPONSIVENESS | CYTOKINE PRODUCTION | ALLERGY | LUNG INFLAMMATION | T-LYMPHOCYTES | Interleukin-13 - immunology | Interleukin-33 - immunology | Respiratory Syncytial Virus Infections - immunology | Viral Load | Mice, Knockout | Lung - virology | Animals | Lymphocytes - immunology | Female | Mucus - metabolism | Lung - metabolism | Mice, Inbred BALB C | Respiratory Syncytial Virus Infections - virology | Cytokines - genetics | Lung - immunology | Cytokines - immunology | Virus diseases | Medical colleges | Infants | Health aspects | Mortality | Analysis | Asthma | Proteins | Ostomy | Disease | Lungs | Cytokines | Viruses | Infections | Immune Deficiencies, Infection, and Systemic Immune Disorders | MFI, Mean fluorescence intensity | BAL, Bronchoalveolar lavage | WT, Wild-type | TSLP, Thymic stromal lymphopoietin | KO, Knockout | INSPIRE, Infant Susceptibility to Pulmonary Infections and Asthma Following RSV Exposure | PAS, Periodic acid–Schiff | ILC2, Group 2 innate lymphoid cell | TSLPR, Thymic stromal lymphopoietin receptor | ILC, Innate lymphoid cell | RSV, Respiratory syncytial virus | PFU, Plaque-forming units
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2015, Volume 137, Issue 1, pp. 188 - 196.e4
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2013, Volume 133, Issue 3, pp. 818 - 826.e4
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 139, Issue 2, pp. 607 - 620.e15
Background Patients with heterozygous germline mutations in phosphatase and tensin homolog deleted on chromosome 10 (PTEN) experience autoimmunity and lymphoid... 
Allergy and Immunology | PHTS | autoimmunity | immunologic synapse | PTEN | Regulatory T cells | phosphatases | phosphoinositide 3-kinase | PH domain leucine-rich repeat protein phosphatase | HOMEOSTASIS | PROTEIN | KINASE | PROMOTER MUTATIONS | RILEY-RUVALCABA-SYNDROME | IMMUNOLOGY | ALLERGY | RESOLUTION MELTING ANALYSIS | AKT-MTOR | LYMPHOID HYPERPLASIA | EXPRESSION | Autoimmunity | Humans | Hyperplasia | Middle Aged | Phosphoprotein Phosphatases - metabolism | Male | Immunological Synapses - metabolism | Young Adult | Forkhead Transcription Factors - metabolism | Membrane Potential, Mitochondrial | Adult | Child | Hamartoma Syndrome, Multiple - immunology | Lymphocyte Subsets - physiology | T-Lymphocytes, Regulatory - physiology | PTEN Phosphohydrolase - genetics | Hamartoma Syndrome, Multiple - genetics | Signal Transduction | Cells, Cultured | B-Lymphocytes - physiology | PTEN Phosphohydrolase - metabolism | Nuclear Proteins - metabolism | Mutation - genetics | Protein Transport | Adolescent | Protein Binding | Aged | Medical colleges | Care and treatment | Phosphatases | Gene mutations | Analysis | Children's hospitals | Genomics | Medical genetics | Genetic research | T cells | Tumors | Hamartoma | Proteins | Blood & organ donations | Hematology | Biopsy | Lymphocytes | T cell receptors | Mutation | Kinases | Metabolism | Phosphatase | FACS, Fluorescence-activated cell sorting | TCR, T-cell receptor | mTOR complex 1 | NHERF1, Na+ | H+-exchanger 3 regulatory factor | MALT, Mucosa-associated lymphoid tissue | APC, Allophycocyanin | SHIP, Src homology domain 2–containing inositol phosphatase | HRM, High Resolution DNA Melting | FITC, Fluorescein isothiocyanate | PP2A, Protein phosphatase 2A | mTORC1, PTEN | PHTS, PTEN hamartoma tumor syndrome | PerCP, Peridinin-chlorophyll-protein complex | CS, Cowden syndrome | POD, Peroxidase | Tmem, Memory T | TMRE, Tetramethylrhodamine-ethylester | Immune Deficiencies, Infection, and Systemic Immune Disorders | IC50, Inhibitory concentration of 50 | CTLA-4, Cytotoxic T lymphocyte–associated antigen 4 | PHLPP, PH domain leucine-rich repeat protein phosphatase | AKT | DLG1, Scaffold protein discs, large homolog 1 | FOXP3, Forkhead box P3 | ICAM-1, Intercellular adhesion molecule 1 | iTreg, In vitro induced regulatory T | PE, Phycoerythrin | PI3K, Phosphoinositide 3-kinase | mTOR, Mammalian target of rapamycin | PTEN, Phosphatase and tensin homologue deleted on chromosome 10
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2014, Volume 133, Issue 6, pp. 1660 - 1666
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2015, Volume 137, Issue 3, pp. 899 - 906.e2
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2015, Volume 136, Issue 3, pp. 692 - 702.e2
Background Wiskott-Aldrich syndrome (WAS) is a severe X-linked immunodeficiency characterized by microthrombocytopenia, eczema, recurrent infections, and... 
Allergy and Immunology | Wiskott-Aldrich syndrome | primary immunodeficiency | B cell | gene therapy | lentiviral vector | RHEUMATOID-ARTHRITIS | SYSTEMIC-LUPUS-ERYTHEMATOSUS | COMPLEMENT | ADHERENCE TEST | ACTIN POLYMERIZATION | SYNDROME PROTEIN | IMMUNOLOGY | TRANSPLANTATION | PRIMARY IMMUNODEFICIENCY DISEASES | ALLERGY | ACTIVATING FACTOR | LYMPHOCYTES | Wiskott-Aldrich Syndrome Protein - genetics | Bone Marrow - immunology | Humans | Recombinant Fusion Proteins - therapeutic use | Child, Preschool | Infant | Male | Transplantation, Autologous | Gene Expression Profiling | Autoantibodies - biosynthesis | Wiskott-Aldrich Syndrome - genetics | Wiskott-Aldrich Syndrome - therapy | Hematopoietic Stem Cells - immunology | Bone Marrow - metabolism | B-Lymphocyte Subsets - immunology | Lentivirus - genetics | Wiskott-Aldrich Syndrome - pathology | Child | Immunoglobulins - biosynthesis | Gene Expression | Wiskott-Aldrich Syndrome - immunology | Transduction, Genetic | B-Lymphocyte Subsets - pathology | Hematopoietic Stem Cell Transplantation | Immunophenotyping | Hematopoietic Stem Cells - metabolism | B-Cell Activating Factor - metabolism | B-Lymphocyte Subsets - metabolism | Wiskott-Aldrich Syndrome Protein - immunology | B-Cell Activating Factor - genetics | Bone Marrow - pathology | Transplantation Conditioning | Genetic Vectors | Genetic Therapy - methods | Autoimmunity | Care and treatment | Genetic vectors | Genes | Immunodeficiency | Genetic research | Lymphomas | Transplantation | Gene therapy | Health aspects | Hematopoietic stem cells | Bone marrow | Immunoglobulins | Patients | Immune Deficiencies, Infection, and Systemic Immune Disorders | WASp, Wiskott-Aldrich syndrome protein | WAS, Wiskott-Aldrich syndrome | GT, Gene therapy | PB, Peripheral blood | IVIg, Intravenous immunoglobulin | VCN, Vector copy number | HSC, Hematopoietic stem cell | HD, Healthy donor | BAFF, B cell–activating factor | BM, Bone marrow | SDF-1α, Stromal cell–derived factor 1α
Journal Article