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Journal of allergy and clinical immunology, ISSN 0091-6749, 2016, Volume 138, Issue 1, pp. 210 - 218.e9
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, 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
Journal of allergy and clinical immunology, ISSN 0091-6749, 2014, Volume 134, Issue 1, pp. 233 - 236.e3
Journal Article
Journal of allergy and clinical immunology, ISSN 0091-6749, 2011, Volume 129, Issue 3, pp. 770 - 777
Allergy and Immunology | infections | immunodeficiency | immunoglobulins | Haemophilus influenzae | IgM | 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 | Respiratory System - pathology | Agammaglobulinemia - immunology | Antibodies, Viral - metabolism | Prospective Studies | Humans | Haemophilus Infections - epidemiology | Male | Risk | Haemophilus Infections - complications | Immunoglobulin M - immunology | Incidence | Immunoglobulin M - metabolism | Respiratory System - virology | Female | Child | Hyper-IgM Immunodeficiency Syndrome - complications | Respiratory System - immunology | Agammaglobulinemia - complications | Hyper-IgM Immunodeficiency Syndrome - epidemiology | Adolescent | Haemophilus influenzae - immunology | Hyper-IgM Immunodeficiency Syndrome - immunology | Antibodies, Viral - immunology | Haemophilus Infections - immunology | Haemophilus influenzae - pathogenicity | Agammaglobulinemia - epidemiology | Tyrosine | Care and treatment | Immunoglobulins | Bacterial infections | Hemophilus infections | Immunodeficiency | Disease susceptibility | Plasma | Antibiotics | Lymphocytes | Bacteria | Chronic obstructive pulmonary disease | Kinases | Multivariate analysis | Age | Streptococcus infections | Index Medicus | Abridged Index Medicus | Immunoglobulin M | Agammaglobulinemia | Respiratory System | Antibodies, Viral | Life Sciences | Microbiology and Parasitology | Haemophilus Infections | Hyper-IgM Immunodeficiency Syndrome
Journal Article
Journal of allergy and clinical immunology, ISSN 0091-6749, 2014, Volume 134, Issue 2, pp. 276 - 284
Allergy and Immunology | nuclear factor κB | next-generation sequencing | CARMA1 | primary immunodeficiency diseases | CARD11-BCL10-MALT1 signalosome complex | paracaspase | congenital B-cell lymphocytosis | combined immunodeficiency | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Immunologic Deficiency Syndromes - pathology | Caspases - immunology | Humans | NF-kappa B - immunology | Neoplasm Proteins - immunology | CARD Signaling Adaptor Proteins - genetics | Adaptor Proteins, Signal Transducing - immunology | Germ-Line Mutation | B-Lymphocytes - pathology | Immunologic Deficiency Syndromes - diagnosis | Immunologic Deficiency Syndromes - immunology | Neoplasm Proteins - genetics | CARD Signaling Adaptor Proteins - immunology | Guanylate Cyclase - immunology | Signal Transduction | Caspases - genetics | Gene Expression Regulation | Receptors, Antigen, B-Cell - immunology | B-Lymphocytes - immunology | NF-kappa B - genetics | B-Cell CLL-Lymphoma 10 Protein | Adaptor Proteins, Signal Transducing - genetics | Immunologic Deficiency Syndromes - genetics | Guanylate Cyclase - genetics | Receptors, Antigen, B-Cell - genetics | High-Throughput Nucleotide Sequencing | Mucosa-Associated Lymphoid Tissue Lymphoma Translocation 1 Protein | Lymphomas | Immunodeficiency | Index Medicus | Abridged Index Medicus | Primary immunodeficiency diseases | Congenital B cell lymphocytosis | NF-κB | Combined immunodeficiency | CARD11–BCL10–MALT1 (CBM) signalosome complex | Paracaspase | Next generation sequencing
Journal Article
Journal of allergy and clinical immunology, ISSN 0091-6749, 2015, Volume 136, Issue 3, pp. 819 - 821.e1
Journal Article
Journal of allergy and clinical immunology, ISSN 0091-6749, 2016, Volume 138, Issue 6, pp. 1681 - 1689.e8
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 | DNA-Binding Proteins | 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