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1. Full Text Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study
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
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2. Full Text Bone marrow transplantation for MHC class I deficiency corrects T-cell immunity but dissociates natural killer cell repertoire formation from function
by Gao, Yifang, PhD and Arkwright, Peter D., FRCPCH, DPhil and Carter, Rachel, MSc and Cazaly, Angelica, PhD and Harrison, Rebecca J., BSc and Mant, Alexandra, PhD and Cant, Andrew J., FRCP, FRCPCH, MD and Gadola, Stephan, FRCP, PhD and Elliott, Tim J., PhD and Khakoo, Salim I., FRCP, MD and Williams, Anthony P., MRCP, FRCPath, PhD
Journal of allergy and clinical immunology, ISSN 0091-6749, 2016, Volume 138, Issue 6, pp. 1733 - 1736.e2
Allergy and Immunology | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Genes, MHC Class I - immunology | Humans | Histocompatibility Antigens Class I - immunology | Killer Cells, Natural - immunology | Male | T-Lymphocytes - immunology | Histocompatibility Antigens Class I - genetics | Cytotoxicity, Immunologic - immunology | Immunologic Deficiency Syndromes - immunology | Bone Marrow Transplantation - methods | Child | Bone marrow | Killer cells | Transplantation | T cells | Flow cytometry | Transplants & implants | Families & family life | T cell receptors | Streptococcus infections | Proteins | Genotype & phenotype | Lymphocytes | Ulcers | Stem cells | Ligands | Age | Letter to the Editor
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3. Full Text Common variable immunodeficiency is associated with a functional deficiency of invariant natural killer T cells
by Gao, Yifang, PhD and Workman, Sarita, MSc and Gadola, Stephan, MD, PhD and Elliott, Tim, PhD and Grimbacher, Bodo, MD and Williams, Anthony P., MRCP, FRCPath, PhD
Journal of allergy and clinical immunology, ISSN 0091-6749, 2014, Volume 133, Issue 5, pp. 1420 - 1428.e1
Allergy and Immunology | cytokine | CVID | proliferation | XLA | iNKT | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Fundamental immunology | Immunopathology | Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis | Biological and medical sciences | Medical sciences | Immunodeficiencies. Immunoglobulinopathies | Immunodeficiencies | Common Variable Immunodeficiency - immunology | Humans | Cells, Cultured | Common Variable Immunodeficiency - pathology | Common Variable Immunodeficiency - genetics | Male | Genetic Diseases, X-Linked - immunology | Natural Killer T-Cells - pathology | Genetic Diseases, X-Linked - pathology | Adult | Female | Genetic Diseases, X-Linked - genetics | Cytokines - genetics | Cytokines - immunology | Natural Killer T-Cells - immunology | T cells | Immunological deficiency syndromes | Studies | Flow cytometry | Cell culture | Disease | Lymphocytes | Ligands | Autoimmune diseases | Age | Immune system | Index Medicus | Abridged Index Medicus
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4. Full Text Precision Molecular Diagnosis Defines Specific Therapy in Combined Immunodeficiency with Megaloblastic Anemia Secondary to MTHFD1 Deficiency
by Ramakrishnan, Kesava A., MD and Pengelly, Reuben J., PhD and Gao, Yifang, PhD and Morgan, Mary, FRCPath and Patel, Sanjay V., MD and Davies, E. Graham, MD and Ennis, Sarah, PhD and Faust, Saul N., MD, PhD and Williams, Anthony P., MD, PhD
The journal of allergy and clinical immunology in practice (Cambridge, MA), ISSN 2213-2198, 2016, Volume 4, Issue 6, pp. 1160 - 1166.e10
Internal Medicine | Allergy and Immunology | C-1-Tetrahydrofolate synthase (C1-THF synthase) | Folinic acid | Megaloblastic anemia | Combined immunodeficiency | Lymphopenia | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Anemia, Megaloblastic - genetics | Methylenetetrahydrofolate Dehydrogenase (NADP) - deficiency | Severe Combined Immunodeficiency - diagnosis | Humans | Anemia, Megaloblastic - immunology | Severe Combined Immunodeficiency - drug therapy | Child, Preschool | Infant | Male | Severe Combined Immunodeficiency - immunology | Exome | Severe Combined Immunodeficiency - genetics | Anemia, Megaloblastic - diagnosis | Anemia, Megaloblastic - drug therapy | Minor Histocompatibility Antigens - genetics | Leucovorin - therapeutic use | Mutation | Child | Infant, Newborn | Methylenetetrahydrofolate Dehydrogenase (NADP) - genetics | Flow cytometry | Pneumonia | Immunoglobulins | Dehydrogenases | Transplants & implants | Anemia | Genes | Data processing | Arthritis | Vaccines | Carbon | Patients | Whooping cough | Genotype & phenotype | Lymphocytes | Poliomyelitis | Bone marrow | Meningitis | Tetanus | Age | Index Medicus
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5. Full Text Reply
by Gao, Yifang, PhD and Gadola, Stephan, MD, PhD and Grimbacher, Bodo, MD and Williams, Anthony P., MRCP, FRCPath, PhD
Journal of allergy and clinical immunology, ISSN 0091-6749, 2014, Volume 134, Issue 4, pp. 990 - 990
Allergy and Immunology
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6. Full Text Clinical Utility of Random Anti–Tumor Necrosis Factor Drug–Level Testing and Measurement of Antidrug Antibodies on the Long‐Term Treatment Response in Rheumatoid Arthritis
by Warren, Richard B and Griffiths, Christopher E. M and Fu, Bo and Morgan, Ann W and Wilson, Anthony G and Isaacs, John D and Nisar, M and Fairburn, K and Hui, M and Coady, D and Raftery, G and Bracewell, C and Ashok, D and Ding, T and Badcock, L. J and Raj, N and Regan, M. R and Wilkinson, C and Kelly, C. A and Heycock, C. R and Saravanan, V and Ng, N and Green, M and Lawson, C and Wazir, T and Bingham, S and Conaghan, P.G and Parker, B and Jenkins, E and Mukhtyar, C and Gaffney, K and Marshall, T and Merry, P and Bates, D and James, D and Alvi, A and Grey, C and McHale, J. F and Jones, A. C and Pande, I and Doherty, M and Courtney, P. A and Das, L and Pattrick, M and Snowden, H. N and Ledingham, J. M and Shaban, R and Woolf, A. D and Davis, M and Hutchinson, D and Endean, A and Kennedy, T. D and Dubois, C and Jenkinson, T and Bhalla, A and McHugh, N and O'Neil, T and Jones, A. K and Carruthers, D. C and Grindulis, K. A and Akil, M and Till, S and Till, S and Tuck, S and Marguerie, C. P and Rigby, S. P and Dunn, N and Abbas, I and Klocke, R and Whallett, A. J and Douglas, K and Pace, A and Griffiths, I and Kay, L and Walker, D. J and Peterson, P and Lorenzi, A and Thompson, B and Lee, M and Pratt, A and Dunne, C. A and Mulherin, D and Sheeran, T and Al- Allaf, W and McKenna, F and Bowman, S. J and Dubey, S and Sheldon, P and Hassan, W and Francis, J and Kinder, A and Neame, R and Ottewell, L and Hassell, A and Kamath, S and Paskins, Z and O'Reilly, D. T and Green, M and Quinn, D and Al Saffar, Z and Biology Rheumatoid Arthrit Genetic and Biologics in Rheumatoid Arthritis Genetics and Genomics Study Syndicate Collaborators
Arthritis & rheumatology (Hoboken, N.J.), ISSN 2326-5191, 08/2015, Volume 67, Issue 8, pp. 2011 - 2019
Life Sciences & Biomedicine | Rheumatology | Science & Technology | Hydroxychloroquine - therapeutic use | Prognosis | Prospective Studies | Immunoglobulin G - blood | Humans | Middle Aged | Antirheumatic Agents - immunology | Male | Methotrexate - therapeutic use | Receptors, Tumor Necrosis Factor - therapeutic use | Etanercept | Arthritis, Rheumatoid - drug therapy | Immunoglobulin G - immunology | Antibodies, Monoclonal, Humanized - blood | Receptors, Tumor Necrosis Factor - blood | Antibodies - immunology | Adult | Female | Antirheumatic Agents - therapeutic use | Sulfasalazine - therapeutic use | Antibodies, Monoclonal, Humanized - therapeutic use | Antirheumatic Agents - blood | Enzyme-Linked Immunosorbent Assay | Immunoglobulin G - therapeutic use | Treatment Outcome | Aged | Adalimumab | Antibodies, Monoclonal, Humanized - immunology | Arthritis, Rheumatoid - immunology | Receptors, Tumor Necrosis Factor - immunology | Tumor Necrosis Factor-alpha - antagonists & inhibitors | Cohort Studies | Confidence intervals | Gangrene | Tumor necrosis factor-TNF | Immunoglobulins | Rheumatoid arthritis | Index Medicus | Abridged Index Medicus | Rheumatoid Arthritis
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7. Full Text Efficiency and safety of varying the frequency of whole blood donation (INTERVAL): a randomised trial of 45 000 donors
by Di Angelantonio, Emanuele and Thompson, Simon G and Kaptoge, Stephen and Moore, Carmel and Ouwehand, Willem H and Roberts, David J and Danesh, John and Di Angelantonio, Emanuele and Thompson, Simon G and Kaptoge, Stephen and Moore, Carmel and Walker, Matthew and Armitage, Jane and Roberts, David J and Danesh, John and Donovan, Jenny and Henry, Rachel and Hunt, Beverley J and Miflin, Gail and Green, Jane and Watkins, Nicholas A and McDermott, Alan and Thomson, Claire and Tolkien, Zoe and Williamson, Lorna and Allen, David and Sambrook, Jennifer and Hammerton, Tracey and Choudry, Fizzah and Ghevaert, Cedric and Johnston, Kirstie and Kelly, Anne and Mo, Alfred and Page, Lizanne and Richardson, Penny and Senior, Peter and Wong, Henna and Murphy, Gavin and Newland, Adrian C and Greaves, Michael and Brain, Richard and Davies, Christine and Wakeman, Paula and Dent, Alison and Anthony, Ben and Bland, Desmond and Parrondo, Will and Vincent, Helen and Weatherill, Candy and Forsyth, Andrea and Butterfield, Carol and Wright, Tracey and Ellis, Karen and Poynton, Pat and Martin, Emma and Littler, Lara and Williams, Lindsay and Blair, Donna and Ackerley, Karen and Woods, Lynn and Stanley, Sophie and Walsh, Gemma and Franklin, Gayle and Sharpe, Sarah and Smith, Deborah and Botham, Lauren and Williams, Caroline and Alexander, Claire and Furnival, Diane and Patel, Shilpa and Roost, Carolyn and Sowerby, Sandra and Appleton, Mary Joy and Bays, Eileen and Bowyer, Geoff and Clarkson, Steven and Halson, Stuart and Holmes, Kate and Humphries, Gareth and Parvin-Cooper, Lee and Towler, Jason and Addy, Joanne and Barrass, Patricia and Dingwall, Hannah and Clarke, Victoria and Potton, Maria and Bolton, Thomas and Daynes, Michael and Spackman, Sarah and Momodu, Abudu and King, Adam and Oates, Nicholas and Ryan, Christine and Stubbins, Craig and Williams, Joanna and Brennan, James and Mochon, Cedric and Taylor, Samantha and Warren, Kimberley and Mant, Jonathan and INTERVAL Trial Group and INTERVAL Trial Grp
The Lancet (British edition), ISSN 0140-6736, 11/2017, Volume 390, Issue 10110, pp. 2360 - 2371
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Age Factors | Risk Assessment | Humans | Middle Aged | Male | United Kingdom | Anemia, Iron-Deficiency - prevention & control | Young Adult | Ferritins - blood | Time Factors | Efficiency | Patient Safety | Sex Factors | Adult | Female | Blood Donors - statistics & numerical data | Blood banks | Blood donors | Women | Medical research | Blood & organ donations | Anemia | Clinical trials | Iron | Evidence-based medicine | Blood | Studies | Restless legs syndrome | Mens health | Side effects | Blood groups | Intervention | Intervals | Heart | Signs and symptoms | Nutrient deficiency | Physical activity | Cognitive ability | Ferritin | Quality of life | Randomization | Algorithms | Hemoglobin | Safety | Index Medicus | Abridged Index Medicus
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8. Full Text The diagnostic concordance of whole slide imaging and light microscopy: A systematic review
by Goacher, Edward and Randell, Rebecca and Williams, Bethany and Treanor, Darren
Archives of pathology & laboratory medicine (1976), ISSN 0003-9985, 01/2017, Volume 141, Issue 1, pp. 151 - 161
Pathology | Life Sciences & Biomedicine | Medical Laboratory Technology | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Diagnostic Imaging - methods | Microscopy - methods | Pathology, Clinical - methods | Reproducibility of Results | Microscopy - instrumentation | Diagnostic Imaging - instrumentation | Humans | Image Interpretation, Computer-Assisted - methods | Sensitivity and Specificity | Pathology, Clinical - instrumentation | Practice guidelines (Medicine) | Evaluation | Diagnostic imaging | Microscope and microscopy | Innovations | Index Medicus | Abridged Index Medicus
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9. Full Text A Systematic Analysis of Discordant Diagnoses in Digital Pathology Compared With Light Microscopy
by Williams, Bethany J and DaCosta, Philip and Goacher, Edward and Treanor, Darren
Archives of pathology & laboratory medicine (1976), ISSN 1543-2165, 12/2017, Volume 141, Issue 12, p. 1712
Diagnostic imaging | Management | Comparative analysis | Microscope and microscopy | Computer-aided medical diagnosis
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