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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, ISSN 0091-6749, 2016, Volume 139, Issue 2, pp. 597 - 606.e4
Allergy and Immunology | 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 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 | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | 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 | Index Medicus | Abridged Index Medicus | 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
2020, Handbook of Systemic Autoimmune Diseases, ISBN 044464217X, Volume 16, 230
eBook
Journal of allergy and clinical immunology, ISSN 0091-6749, 2016, Volume 138, Issue 3, pp. 814 - 824.e11
Journal Article
Journal of allergy and clinical immunology, ISSN 0091-6749, 2016, Volume 139, Issue 2, pp. 607 - 620.e15
Allergy and Immunology | PHTS | autoimmunity | immunologic synapse | PTEN | Regulatory T cells | PH domain leucine-rich repeat protein phosphatase | phosphatases | phosphoinositide 3-kinase | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | 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 | Index Medicus | Abridged Index Medicus | 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, ISSN 0091-6749, 2014, Volume 135, Issue 4, pp. 998 - 1007.e6
Allergy and Immunology | cohesin | class-switch recombination defect | CSR synapse | Chromatin remodeling | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Cell Line | ATPases Associated with Diverse Cellular Activities | Chromosomal Proteins, Non-Histone - metabolism | Humans | Cell Cycle Proteins - metabolism | Gene Expression Regulation | Cell Survival - genetics | Chromatin Assembly and Disassembly | Immunoglobulin Isotypes - genetics | Protein Transport | Genetic Variation | DNA Helicases - metabolism | Carrier Proteins - metabolism | Models, Biological | DNA Repair | Gene Rearrangement | Immunoglobulin Switch Region | Immunologic Deficiency Syndromes - genetics | Immunologic Deficiency Syndromes - metabolism | Protein Binding | Immunologic Deficiency Syndromes - immunology | DNA Helicases - genetics | Immunoglobulin Class Switching | Immunoglobulins | Chromatin | Genomics | Immunodeficiency | Proteins | DNA methylation | Chronic obstructive pulmonary disease | Infections | Mutation | Patients | Age | Deoxyribonucleic acid--DNA | Immune system | Defects | Index Medicus | Abridged Index Medicus | Immune Deficiencies, Infection, and Systemic Immune Disorders | TCR, T-cell receptor | CSR, Class-switch recombination | MMR, Mismatch repair | AID, Activation-induced cytidine deaminase | ChIP, Chromatin immunoprecipitation | CSR-Ds, CSR defects | NHEJ, Non-homologous end joining | GLT, Germ-line transcript | DAPI, 4′,6-Diamidino-2-phenylindole | wt, Wild type
Journal Article
Journal Article
Journal Article
Journal of allergy and clinical immunology, ISSN 0091-6749, 2014, Volume 133, Issue 6, pp. 1660 - 1666
Allergy and Immunology | natural killer cells | engraftment | chimerism | Severe combined immunodeficiency | conditioning | adenosine deaminase deficiency | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Fundamental immunology | Immunopathology | Purines and pyrimidines (gout, hyperuricemia...) | Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis | Other metabolic disorders | Biological and medical sciences | Metabolic diseases | Medical sciences | T-Lymphocyte Subsets - immunology | Graft Survival - immunology | Humans | Severe Combined Immunodeficiency - mortality | Hematopoietic Stem Cell Transplantation | Severe Combined Immunodeficiency - therapy | Infant | Male | Severe Combined Immunodeficiency - immunology | Transplantation Chimera | Transplantation, Homologous | T-Lymphocyte Subsets - metabolism | Killer Cells, Natural - immunology | Female | Transplantation Conditioning | Infant, Newborn | Cell Lineage - immunology | Care and treatment | Children's hospitals | Stem cells | Transplantation | T cells | Hematopoietic stem cells | Bone marrow | Transplants & implants | Immune system | Index Medicus | Abridged Index Medicus | JAK3, Janus kinase 3 | Immune Deficiencies, Infection, and Systemic Immune Disorders | TREC, T-cell receptor excision circle | allo-SCT, Allogeneic hematopoietic stem cell transplantation | MFD, Matched family donor | SCID, Severe combined immunodeficiency | MSD, Matched sibling donor | NK, Natural killer | ADA, Adenosine deaminase deficiency
Journal Article