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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, 2016, Volume 138, Issue 1, pp. 210 - 218.e9
Journal Article
Journal of allergy and clinical immunology, ISSN 0091-6749, 2014, Volume 134, Issue 1, pp. 116 - 126.e11
Allergy and Immunology | patient self-reported outcomes | treatment | Common variable immunodeficiency | primary antibody deficiency | autoimmunity | enteropathy | immunoglobulin replacement | quality of life | lymphadenopathy | granulomas | 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 | Autoimmunity | Common Variable Immunodeficiency - immunology | Common Variable Immunodeficiency - drug therapy | Humans | Child, Preschool | Lymphoproliferative Disorders - complications | Male | Lymphoproliferative Disorders - immunology | Splenomegaly - pathology | Bronchiectasis - pathology | Common Variable Immunodeficiency - mortality | Pneumonia - mortality | Pneumonia - immunology | Adult | Female | Retrospective Studies | Child | Europe | Delayed Diagnosis | Common Variable Immunodeficiency - complications | Lymphoproliferative Disorders - mortality | Pneumonia - drug therapy | Immunoglobulins, Intravenous - therapeutic use | Adolescent | Age of Onset | Survival Analysis | Pneumonia - complications | Lymphoproliferative Disorders - drug therapy | Immunological deficiency syndromes | Care and treatment | Health aspects | Respiratory tract diseases | Studies | Pneumonia | Databases | Meningitis | Multivariate analysis | Patients | Lymphoma | Age | Index Medicus | Abridged Index Medicus | Medicin och hälsovetenskap
Journal Article
by Slack, James, MD and Albert, Michael H., MD and Balashov, Dmitry, PhD and Belohradsky, Bernd H., MD and Bertaina, Alice, PhD and Bleesing, Jack, PhD and Booth, Claire, PhD and Buechner, Jochen, PhD and Buckley, Rebecca H., MD and Ouachée-Chardin, Marie, MD and Deripapa, Elena, MD and Drabko, Katarzyna, MD and Eapen, Mary, MD and Feuchtinger, Tobias, MD and Finocchi, Andrea, PhD and Gaspar, H. Bobby, PhD and Ghosh, Sujal, MD and Gillio, Alfred, MD and Gonzalez-Granado, Luis I., MD and Grunebaum, Eyal, MD and Güngör, Tayfun, MD and Heilmann, Carsten, MD and Helminen, Merja, PhD and Higuchi, Kohei, MD and Imai, Kohsuke, PhD and Kalwak, Krzysztof, MD and Kanazawa, Nubuo, PhD and Karasu, Gülsün, MD and Kucuk, Zeynep Y., MD and Laberko, Alexandra, MD and Lange, Andrzej, MD and Mahlaoui, Nizar, MD and Meisel, Roland, MD and Moshous, D., PhD and Muramatsu, Hideki, PhD and Parikh, Suhag, MD and Pasic, Srdjan, PhD and Schmid, Irene, MD and Schuetz, Catharina, PhD and Schulz, Ansgar, MD and Schultz, Kirk R., MD and Shaw, Peter J., MD and Slatter, Mary A., MD and Sykora, Karl-Walter, PhD and Tamura, Shinobu, PhD and Taskinen, Mervi, MD and Wawer, Angela, MD and Wolska-Kuśnierz, Beata, PhD and Cowan, Morton J., MD and Fischer, Alain, PhD and Gennery, Andrew R., MD and Center for International Blood and Marrow Transplant Research and Inborn Errors Working Party of the European Society for Blood and Marrow Transplantation and the European Society for Immunodeficiencies and Primary Immunodeficiency Treatment Consortium and Stem Cell Transplant for Immunodeficiencies in Europe (SCETIDE) and Ctr Int Blood Marrow and European Soc Blood Marrow and Primary Immunodeficiency Treatment and European Soc Immunodeficiencies and Stem Cell Transplant
Journal of allergy and clinical immunology, ISSN 0091-6749, 2017, Volume 141, Issue 1, pp. 322 - 328.e10
Allergy and Immunology | hematopoietic stem cell transplantation | Ataxia-telangiectasia | DNA repair disorders | DNA ligase IV deficiency | Nijmegen breakage syndrome | Cernunnos-XLF deficiency | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Prognosis | Follow-Up Studies | Humans | Child, Preschool | Infant | Male | DNA Repair-Deficiency Disorders - diagnosis | DNA Breaks, Double-Stranded | Young Adult | DNA Repair-Deficiency Disorders - mortality | Hematopoietic Stem Cell Transplantation - adverse effects | Female | Child | Graft vs Host Disease - diagnosis | Graft vs Host Disease - etiology | Virus Diseases | Kaplan-Meier Estimate | Treatment Outcome | DNA Repair | Adolescent | Alleles | Hematopoietic Stem Cell Transplantation - methods | Mutation | DNA Repair-Deficiency Disorders - genetics | DNA Repair-Deficiency Disorders - therapy | Graft-versus-host reaction | Radiosensitivity | Transplants & implants | Syngeneic grafts | DNA damage | Disorders | Bone marrow transplantation | Transplantation | Infections | Malignancy | Kinases | DNA repair | Alkylation | Proteins | Consortia | Lymphocytes | Cell cycle | Bone marrow | Ataxia | Conditioning | Repair | Deoxyribonucleic acid--DNA | Antigens | Complications | Anemia | Mortality | Immunodeficiency | DNA ligase (ATP) | Radiation therapy | Double-strand break repair | Patients | Survival | Immunological tolerance | Hemopoiesis | Cyclophosphamide | Chemotherapy | Breakage | Stem cells | Ataxia telangiectasia | Index Medicus | Abridged Index Medicus
Journal Article
Journal of allergy and clinical immunology, ISSN 0091-6749, 2012, Volume 130, Issue 5, pp. 1144 - 1152.e11
Allergy and Immunology | LCK, SRC tyrosine kinase | recurrent infections | CD4 | T-cell receptor signaling | autoinflammation | immunodeficiency | genetic defect | lymphopenia | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Hematologic and hematopoietic diseases | Other diseases. Hematologic involvement in other diseases | 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 | Genetic Predisposition to Disease | T-Lymphocytopenia, Idiopathic CD4-Positive - diagnosis | Receptors, Antigen, T-Cell - metabolism | Genes, Recessive - genetics | Humans | Cells, Cultured | Child, Preschool | T-Lymphocytopenia, Idiopathic CD4-Positive - genetics | Mutation, Missense - genetics | Polymorphism, Genetic | CD4-Positive T-Lymphocytes - immunology | DNA Mutational Analysis | Pedigree | Immunologic Deficiency Syndromes - genetics | Lymphocyte Specific Protein Tyrosine Kinase p56(lck) - chemistry | Female | Lymphocyte Specific Protein Tyrosine Kinase p56(lck) - genetics | Calcium Signaling - genetics | France | Immunologic Deficiency Syndromes - diagnosis | Tyrosine | Antigens | T cells | Genes | Immunodeficiency | T cell receptors | Infections | Kinases | Viral infections | Immune system | Index Medicus | Abridged Index Medicus | Autoimmunity | Calcium mobilization | Phosphorylation | CD8 antigen | Recurrent infection | Inflammation | Lymphocytes T | Risk factors | CD4 antigen | Calcium signalling | T-cell receptor | Missense mutation | Lymphopenia | Lck protein | Respiratory tract diseases | Differentiation | Protein-tyrosine kinase | Age | uniparental disomy | Life Sciences | Biochemistry, Molecular Biology
Journal Article
Journal of allergy and clinical immunology, ISSN 0091-6749, 2016, Volume 138, Issue 6, pp. 1752 - 1755
Journal Article
Journal of allergy and clinical immunology, ISSN 0091-6749, 2016, Volume 139, Issue 4, pp. 1302 - 1310.e4
Journal Article
Journal of allergy and clinical immunology, ISSN 0091-6749, 2014, Volume 134, Issue 5, pp. 1131 - 1141.e9
Allergy and Immunology | Inflammatory bowel disease | Crohn disease | monocytes | NOD receptors | X-linked inhibitor of apoptosis immunodeficiency | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Gastroenterology. Liver. Pancreas. Abdomen | Stomach. Duodenum. Small intestine. Colon. Rectum. Anus | 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 | Other diseases. Semiology | Crohn Disease - genetics | Humans | Child, Preschool | Infant | Male | Nod2 Signaling Adaptor Protein - genetics | Adult | Female | Genetic Diseases, X-Linked - genetics | Child | Cytokines - genetics | Cytokines - blood | Genetic Diseases, X-Linked - blood | Chromosomes, Human, X - genetics | Lymphoproliferative Disorders - genetics | Lymphoproliferative Disorders - pathology | Lymphoproliferative Disorders - blood | X-Linked Inhibitor of Apoptosis Protein - genetics | Hemizygote | Nod2 Signaling Adaptor Protein - metabolism | Crohn Disease - pathology | Crohn Disease - blood | Adolescent | Age of Onset | Genetic Diseases, X-Linked - pathology | Heterozygote | Chromosomes, Human, X - metabolism | Cohort Studies | Women | Oligomers | Crohn's disease | Health aspects | Risk factors | Apoptosis | Proteins | Signal transduction | Cytokines | Biopsy | Boys | Mutation | Patients | Age | Immune system | Index Medicus | Abridged Index Medicus
Journal Article