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Science, ISSN 0036-8075, 11/2013, Volume 342, Issue 6160, pp. 866 - 871
Journal Article
FRONTIERS IN IMMUNOLOGY, ISSN 1664-3224, 09/2018, Volume 9, p. 2043
Activated phosphoinositide 3-kinase delta syndrome (APDS), also known as PASLI disease (p110d-activating mutation causing senescent T cells, lymphadenopathy,... 
APDs | DIAGNOSIS | 3-KINASE DELTA SYNDROME | BRONCHIECTASIS | IMMUNOLOGY | DEFICIENCY | activated PI3 kinase delta syndrome | THERAPY | LENIOLISIB | primary immunodeficiency | PASLI | COHORT | MUTATIONS | INHIBITOR | HSCT | IMMUNODEFICIENCY
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 | 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 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 | 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 | 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 1, pp. 210 - 218.e9
Background Activated phosphoinositide 3-kinase δ syndrome (APDS) 2 (p110δ-activating mutations causing senescent T cells, lymphadenopathy, and immunodeficiency... 
Allergy and Immunology | and immunodeficiency | p110δ-activating mutations causing senescent T cells | hyper-IgM | adenopathy | p110δ | activated phosphoinositide 3-kinase δ syndrome | p85α | antibody deficiency | immunodeficiency | lymphadenopathy | phosphoinositide 3-kinase | Primary immunodeficiency | Class I Phosphatidylinositol 3-Kinases/genetics | RNA Splice Sites | Gene Frequency | Humans | Middle Aged | Immunologic Deficiency Syndromes/diagnosis | Child, Preschool | Genotype | Male | Young Adult | CD8-Positive T-Lymphocytes/immunology | Phenotype | T-Lymphocyte Subsets/immunology | Biopsy | Adolescent | Alleles | Adult | Female | Mutation | Child | Cohort Studies | p110 delta-activating mutations causing senescent T cells | CELLS | HUMAN IMMUNODEFICIENCY | KINASE | p85 alpha | IMMUNOLOGY | p110 delta | ALLERGY | MUTATIONS | activated phosphoinositide 3-kinase delta syndrome | T-Lymphocyte Subsets - immunology | Class I Phosphatidylinositol 3-Kinases - genetics | Immunologic Deficiency Syndromes - etiology | Immunologic Deficiency Syndromes - mortality | CD8-Positive T-Lymphocytes - metabolism | Immunologic Deficiency Syndromes - diagnosis | T-Lymphocyte Subsets - metabolism | CD8-Positive T-Lymphocytes - immunology | Life Sciences | Human health and pathology | Economics and Finance | Psychology | Santé publique et épidémiologie | Humanities and Social Sciences | Psychiatrics and mental health
Journal Article
Journal Article
Frontiers in Immunology, ISSN 1664-3224, 09/2018
Journal Article
Frontiers in Immunology, ISSN 1664-3224, 03/2018, Volume 9, p. 543
Activated phosphoinositide 3-kinase (PI3K) δ Syndrome (APDS), caused by autosomal dominant mutations in (APDS1) or (APDS2), is a heterogeneous primary... 
PIK3CD | Rapamycin | PIK3R1 | Registry | Natural history | Activated phosphoinositide 3-kinase δ syndrome | Life Sciences | Genetics | Santé publique et épidémiologie | Immunology | Human genetics | registry | activated phosphoinositide 3-kinase δ syndrome | natural history | rapamycin
Journal Article
Pediatrics, ISSN 0031-4005, 2012, Volume 129, Issue 5, pp. E1368 - E1372
Journal Article
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 02/2017, Volume 139, Issue 2, p. 597
Activated phosphoinositide 3-kinase [delta] syndrome (APDS) is a recently described combined immunodeficiency resulting from gain-of-function mutations in... 
Medicine, Experimental | Medical research | Encephalitis | Cytomegalovirus | Pneumonia | Immunoglobulins | Lymphatic system | Bacterial infections | Laboratories | Ear diseases | Cytotoxicity | Hearing impairment | Patients | Streptococcus infections | Biopsy | Lymphomas | Mutation | Age | Viral infections
Journal Article
ISSN 0091-6749, 2016
Journal Article
Journal Article
Journal Article
Science, ISSN 0036-8075, 11/2013, Volume 342, Issue 6160, pp. 866 - 871
Genetic mutations cause primary immunodeficiences (PIDs) that predispose to infections. Here, we describe activated PI3K-[delta] syndrome (APDS), a PID... 
Respiratory tract infections | Phosphoinositides | Gene mutations | Physiological aspects | Genetic aspects | Research | Health aspects | Phosphotransferases | Genotype & phenotype | Infections | Mutation | Kinases | Respiratory diseases
Journal Article
Journal of Microbiological Methods, ISSN 0167-7012, 2010, Volume 80, Issue 3, pp. 257 - 261
A novel microarray was constructed with DNA PCR product probes targeting species specific functional genes of nine clinically significant respiratory... 
Real-time PCR | Microarray | Respiratory bacteria | COPD | DIAGNOSIS | BIOCHEMICAL RESEARCH METHODS | MICROBIOLOGY | HYBRIDIZATION | HUMAN INTESTINAL BACTERIA | AMPLIFICATION | ACUTE EXACERBATIONS | INDUCED SPUTUM | SAMPLES | PNEUMONIAE | Sputum - microbiology | Pseudomonas aeruginosa - isolation & purification | Pulmonary Disease, Chronic Obstructive - microbiology | Species Specificity | Haemophilus - genetics | Humans | Mycoplasma pneumoniae - genetics | Legionella pneumophila - genetics | Chlamydophila pneumoniae - genetics | Gram-Negative Bacteria - isolation & purification | Chlamydophila pneumoniae - isolation & purification | Coxiella burnetii - genetics | Streptococcus pyogenes - genetics | Streptococcus pneumoniae - isolation & purification | Sensitivity and Specificity | Streptococcus pneumoniae - genetics | DNA, Bacterial - analysis | Respiratory Tract Infections - etiology | Gram-Negative Bacteria - genetics | Moraxella (Branhamella) catarrhalis - isolation & purification | Haemophilus - isolation & purification | Oligonucleotide Array Sequence Analysis - methods | Gram-Positive Bacterial Infections - diagnosis | Gram-Positive Bacterial Infections - etiology | Moraxella (Branhamella) catarrhalis - genetics | Pulmonary Disease, Chronic Obstructive - complications | Respiratory Tract Infections - diagnosis | Legionella pneumophila - isolation & purification | Streptococcus pyogenes - isolation & purification | DNA, Bacterial - genetics | Pseudomonas aeruginosa - genetics | Coxiella burnetii - isolation & purification | Gram-Negative Bacterial Infections - diagnosis | Gram-Negative Bacterial Infections - etiology | Mycoplasma pneumoniae - isolation & purification | Care and treatment | DNA microarrays | Pathogenic microorganisms | Lung diseases | DNA | Genetic research | Bacterial genetics | Bronchiectasis
Journal Article
Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 04/2016, Volume 138, Issue 1, p. 9
Journal Article
by Rouse, Michael and Borsting, Eric and Mitchell, G. Lynn and Cotter, Susan A and Kulp, Marjean and Scheiman, Mitchell and Barnhardt, Carmen and Bade, Annette and Yamada, Tomohike and Gallaway, Michael and Scombordi, Brandy and Boas, Mark and Yamada, Tomohiko and Langan, Ryan and Shoge, Ruth and Zhu, Lily and Cotter, Susan and Chu, Raymond and Parker, Susan and Bridgeford, Rebecca and Morris, Jamie and Villalobos, Javier and Cooper, Jeffrey and Steiner, Audra and Brunelli, Marta and Friedman, Stacy and Ritter, Steven and Wong, Lyndon and Chung, Ida and Fazarry, Ashley and Coulter, Rachel and Amster, Deborah and Fecho, Gregory and Mahaphon, Tanya and Rodena, Jacqueline and Bartuccio, Mary and Tea, Yin and Kulp, Marjean Taylor and Buckland, Michelle and Earley, Michael and Gabriel, Gina and Zimmerman, Aaron and Reuter, Kathleen and Toole, Andrew and Biddle, Molly and Stevens, Nancy and Hopkins, Kristine and Frazier, Marcela and Sims, Janene and Snow, Marsha and Weise, Katherine and Broadfoot, Adrienne and Anderson, Michelle and Baldwin, Catherine and Simms, Leslie and Tamkins, Susanna and Capo, Hilda and Dunbar, Mark and McKeown, Craig and Moshfeghi, Arlanna and Nelson, Kathryn and Fischer, Vicky and Perlman, Adam and Singh, Ronda and Olivares, Eva and Rosa, Ana and Rosado, Nidia and Silverman, Elias and Granet, David and Hustana, Lara and Robbins, Shira and Castro, Erica and Gomi, Cintia and Mohney, Brian G and Holmes, Jonathan and Rice, Melissa and Karlsson, Virginia and Nielsen, Becky and Sease, Jan and Shevlin, Tracee and Pollack, Karen and Hertle, Richard and Mitchell, Gladys Lynn and Kitts, Tracy and Schray, Melanie and Barrett, Linda and Sinnott, Loraine and Watson, Kelly and Wessel, Pam and Redford, Maryann and Diener-West, Marie and Costello, Andrew and Good, William V and Hays, Ron D and Hillis, Argye and Manny, Ruth and Convergence Insufficiency Treatmen and Convergence Insufficiency Treatment Trial (CITT) Investigator Group
Optometry and Vision Science, ISSN 1040-5488, 04/2009, Volume 86, Issue 4, pp. 357 - 363
Journal Article