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Rheumatology, ISSN 1462-0324, 02/2018, Volume 57, Issue 2, pp. 211 - 212
Journal Article
Science, ISSN 0036-8075, 11/2013, Volume 342, Issue 6160, pp. 866 - 871
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 03/2014, Volume 370, Issue 10, pp. 911 - 920
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 | 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, 2010, Volume 125, Issue 2, pp. 424 - 432.e8
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 9/2016, Volume 113, Issue 36, pp. 10127 - 10132
Systemic autoinflammatory diseases are caused by mutations in genes that function in innate immunity. Here, we report an autoinflammatory disease caused by... 
Autoinflammatory disease | Cytokines | Nf-κb pathway | Linear deubiquitinase | OTULIN | ACTIVATION | AMYLOPECTINOSIS | NF-kappa B pathway | UBIQUITIN | MULTIDISCIPLINARY SCIENCES | linear deubiquitinase | ASSEMBLY COMPLEX | CELL-DEATH | HOIP | SHARPIN | autoinflammatory disease | INFLAMMATION | LUBAC DEFICIENCY | cytokines | IMMUNODEFICIENCY | Fibroblasts - enzymology | Humans | NF-kappa B - immunology | Child, Preschool | Male | Fever - physiopathology | Leukocytes, Mononuclear - immunology | HEK293 Cells | Female | Child | Cytokines - genetics | Failure to Thrive - physiopathology | Hereditary Autoinflammatory Diseases - pathology | Cytokines - immunology | Dermatitis - physiopathology | Signal Transduction | Hereditary Autoinflammatory Diseases - enzymology | Gene Expression Regulation | Ubiquitin - genetics | Endopeptidases - deficiency | Hereditary Autoinflammatory Diseases - diagnosis | Fibroblasts - pathology | Endopeptidases - immunology | Leukocytes, Mononuclear - pathology | Endopeptidases - genetics | NF-kappa B - genetics | Pedigree | Age of Onset | Alleles | Fibroblasts - immunology | Leukocytes, Mononuclear - enzymology | Panniculitis - physiopathology | Consanguinity | Mutation | Ubiquitin - immunology | Hereditary Autoinflammatory Diseases - genetics | Allelomorphism | Genetic aspects | Gene mutations | Autoimmune diseases | Health aspects | Biological Sciences | NF-κB pathway
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 | JUVENILE IDIOPATHIC ARTHRITIS | IMMUNOLOGY | PAPA SYNDROME | RECEPTOR 4 | ZINC-METABOLISM | IN-VITRO | INTERFERON-GAMMA | ALLERGY | pyoderma gangrenosum, and acne syndrome | 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