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activated phosphoinositide 3-kinase δ syndrome, pik3cd gene, bronchiectasis, hematopoietic stem cell transplantation, immunodeficiency, p110δ-activating mutation causing senescent t cells, lymphadenopathy, and immunodeficiency, phosphoinositide 3-kinase inhibitor, phosphoinositide 3-kinase δ (1) 1
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Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2010, Volume 126, Issue 5, pp. 1006 - 1015.e4
Background Accumulating evidence implicates TH 17 cytokines in protection against Candida species infections, but the clinical relevance is not clear. Chronic... 
Allergy and Immunology
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, 2010, Volume 125, Issue 2, pp. 424 - 432.e8
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2015, Volume 136, Issue 5, pp. 1337 - 1345
Background Hyperzincemia and hypercalprotectinemia (Hz/Hc) is a distinct autoinflammatory entity involving extremely high serum concentrations of the... 
Allergy and Immunology | phenotype | proline-serine-threonine phosphatase-interacting protein 1 | S100 proteins | calprotectin | myeloid-related protein 8/14 | autoinflammation | pyogenic arthritis, pyoderma gangrenosum, and acne syndrome | Hyperzincemia and hypercalprotectinemia | zinc | genotype | pyogenic arthritis | Journal Article | Research Support, N.I.H., Extramural | Research Support, N.I.H., Intramural | Research Support, Non-U.S. Gov't | pyoderma gangrenosum, and acne syndrome | JUVENILE IDIOPATHIC ARTHRITIS | IMMUNOLOGY | PAPA SYNDROME | RECEPTOR 4 | ZINC-METABOLISM | IN-VITRO | INTERFERON-GAMMA | ALLERGY | PYODERMA-GANGRENOSUM | GENE-EXPRESSION | T-CELLS | Phosphorylation | Protein Binding - genetics | Calgranulin A - metabolism | Cytoskeletal Proteins - genetics | Humans | Leukocyte L1 Antigen Complex - metabolism | Protein Multimerization | Male | Calgranulin A - genetics | Metal Metabolism, Inborn Errors - immunology | Mutation, Missense - genetics | Young Adult | Cytoskeletal Proteins - metabolism | Female | Child | Metal Metabolism, Inborn Errors - genetics | Alarmins - genetics | Cytokines - metabolism | Alarmins - metabolism | Genotype | Pyrin | Phenotype | Protein Interaction Maps - genetics | Adaptor Proteins, Signal Transducing - genetics | Adolescent | Leukocyte L1 Antigen Complex - genetics | Adaptor Proteins, Signal Transducing - metabolism | Proline | Phosphatases | Hospitals | Analysis | Disease | Cytokines | Laboratories | Acne | Mortality | Arthritis | Inflammation | Phosphatase | Inflammatory diseases | Proteins | Genotype & phenotype | Skin | Mutation | myeloid-related protein 8 | pyoderma gangrenosum | and acne syndrome
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2012, Volume 130, Issue 3, pp. 735 - 742.e6
Background Mutations in the SP110 gene result in infantile onset of the autosomal recessive primary immunodeficiency disease veno-occlusive disease with... 
Allergy and Immunology | B-cell development | hypogammaglobulinemia | Veno-occlusive disease with immunodeficiency | SP110 | DIFFERENTIAL EXPRESSION | GENUS MUS | RECEPTOR | IMMUNOLOGY | NUCLEAR-BODY | MEMORY B-CELLS | EVOLUTION | IMPAIRED HUMORAL IMMUNITY | ALLERGY | GENERATION | SECRETING CELLS | CLUSTER | B-Lymphocytes - cytology | Nuclear Proteins - analysis | Minor Histocompatibility Antigens | Humans | Child, Preschool | Immunophenotyping | Infant | Hepatic Veno-Occlusive Disease - immunology | B-Lymphocytes - immunology | Immunoglobulins, Intravenous - therapeutic use | Hepatic Veno-Occlusive Disease - genetics | Immunologic Deficiency Syndromes - genetics | Adult | Immunologic Deficiency Syndromes - drug therapy | Mutation | Immunologic Deficiency Syndromes - immunology | Nuclear Proteins - genetics | Child | Hepatic Veno-Occlusive Disease - drug therapy | Allergy | Medical research | Medical colleges | Care and treatment | Immunoglobulins | Genes | Immunodeficiency | Transplantation | T cells | Allergic reaction | Diseases | Medical genetics | Bone marrow | Medicine, Experimental | Cross infection | Nosocomial infections | Children | Health aspects | Flow cytometry | CD40 antigen | Liver diseases | Hypogammaglobulinemia | Lymphocytes T | Quantitation | Gene expression | Macrophages | Lymphocytes B | Interleukin 21 | Differentiation | DNA sequencing | veno-occlusive disease
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2008, Volume 121, Issue 2, pp. 361 - 367
Background Results of treatment of severe T-lymphocyte immunodeficiencies by means of hematopoietic stem cell (HSC) transplantation have improved. T... 
Allergy and Immunology | hematopoietic stem cell transplantation | T-cell depletion | Severe combined immunodeficiency | immune reconstitution | CD34 + stem cell selection | stem cell selection | CD34 | SCID-X1 | BONE-MARROW-TRANSPLANTATION | CD34(+) stem cell selection | SUBSETS | BMT | immune reconstitution | SINGLE-CENTER | IMMUNOLOGY | severe combined immunodeficiency | CHIMERISM | ALLERGY | INFANTS | DISEASE | GENE-THERAPY | DYSFUNCTION | Antigens, CD - immunology | Immunoglobulin G - blood | Humans | Vaccination | B-Lymphocytes | Haemophilus Infections - prevention & control | Infant | Janus Kinase 3 - deficiency | Antigens, CD34 - immunology | Hematopoietic Stem Cell Transplantation - adverse effects | Severe Combined Immunodeficiency - metabolism | Retrospective Studies | Severe Combined Immunodeficiency - pathology | CD52 Antigen | Severity of Illness Index | Antibodies - therapeutic use | Immunologic Deficiency Syndromes - therapy | T-Lymphocytes | Antigens, Neoplasm - immunology | Tetanus Toxoid - therapeutic use | Immune System - pathology | Severe Combined Immunodeficiency - immunology | Transplantation Chimera | Interleukin Receptor Common gamma Subunit - deficiency | Glycoproteins - immunology | Immune System - physiopathology | Immune System - drug effects | Immunologic Deficiency Syndromes - physiopathology | Immunologic Memory | Haemophilus influenzae type b | Longitudinal Studies | Transplantation | Children | Health aspects | Hematopoietic stem cells | Stem cells | Bone marrow | Vaccines | Transplants & implants | Lymphocytes | Immune system
Journal Article
Emerging Infectious Diseases, ISSN 1080-6040, 10/2016, Volume 22, Issue 10, pp. 1720 - 1727
Severe infections are emerging as major risk factors for death among children with juvenile idiopathic arthritis (JIA). In particular, children with refractory... 
MORTALITY | INFECTIOUS DISEASES | PEDIATRIC RHEUMATIC-DISEASE | THERAPY | SAFETY | PATIENT | UPDATE | IMMUNOLOGY | ADVERSE EVENTS | CARE | CHILDREN | Sepsis - etiology | Catheter-Related Infections - etiology | Adenovirus Infections, Human - etiology | Humans | Arthritis, Juvenile - mortality | Bacteremia - mortality | Central Venous Catheters - adverse effects | Treatment Outcome | Methotrexate - therapeutic use | Adrenal Cortex Hormones - therapeutic use | Arthritis, Juvenile - drug therapy | Epstein-Barr Virus Infections - etiology | Multiple Organ Failure - etiology | Adolescent | Arthritis, Juvenile - complications | Fatal Outcome | Bacteremia - etiology | Female | Viremia - etiology | Child | Tumor Necrosis Factor-alpha - antagonists & inhibitors | Staphylococcal Infections - etiology | Virus diseases | Medical research | Anti-inflammatory drugs | Medicine, Experimental | Arthritis | Transplantation | Research | Methotrexate | Risk factors | Hematopoietic stem cells | central venous catheter bacteria | bacteria | children | anti–TNF-α | United Kingdom | immunosuppression | Infection-Related Death among Persons with Refractory Juvenile Idiopathic Arthritis | combined immunosuppressive and antiinflammatory therapy | biological disease-modifying drugs | TNF-α blocking agents | sepsis | Juvenile idiopathic arthritis
Journal Article