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Lancet, The, ISSN 0140-6736, 2014, Volume 383, Issue 9915, pp. 436 - 448
Summary Background In chronic granulomatous disease allogeneic haemopoietic stem-cell transplantation (HSCT) in adolescents and young adults and patients with... 
Internal Medicine | NADPH OXIDASE | MEDICINE, GENERAL & INTERNAL | EXCELLENT SURVIVAL | IN-VITRO | UNRELATED DONOR | BONE-MARROW-TRANSPLANTATION | EUROPEAN EXPERIENCE | INTRAVENOUS BUSULFAN | RECONSTITUTION | NONMALIGNANT DISEASES | CHILDREN | Transplantation Chimera - physiology | Prospective Studies | Humans | Child, Preschool | Infant | Treatment Outcome | Granulomatous Disease, Chronic - therapy | Vidarabine - analogs & derivatives | Alemtuzumab | Antilymphocyte Serum - administration & dosage | Busulfan - administration & dosage | Young Adult | Antibodies, Monoclonal, Humanized - administration & dosage | Adolescent | Adult | Graft vs Host Disease - prevention & control | Vidarabine - administration & dosage | HLA Antigens | Hematopoietic Stem Cell Transplantation - methods | Transplantation Conditioning - methods | Drug Therapy, Combination | Graft Survival - drug effects | Child | Immunosuppressive Agents - administration & dosage | Granuloma | Care and treatment | Histocompatibility antigens | Patient outcomes | HLA histocompatibility antigens | Stem cells | Transplantation | Identification and classification | Bone marrow | Teenagers | Transplants & implants | Mortality | Pediatrics | Immunologi inom det medicinska området | Pediatrik | hematopoietisk stamcellstransplantation | chronic granulomatous disease | Immunology in the medical area
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2013, Volume 131, Issue 3, pp. 840 - 848
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2009, Volume 124, Issue 6, pp. 1311 - 1318.e7
Background Defects in the development or activation of T cells result in immunodeficiency associated with severe infections early in life. T-cell activation... 
Allergy and Immunology | calcium channel | store-operated Ca | signal transduction | anhydrotic ectodermal dysplasia | T cells | CRAC | amelogenesis imperfecta | dental enamel | entry | STIM1 | ORAI1 | immunodeficiency | congenital myopathy | ACTIVATED CALCIUM-CHANNELS | IMMUNE-DEFICIENCY | IMMUNOLOGY | T-CELL IMMUNODEFICIENCY | MICE LACKING | SKELETAL-MUSCLE | INFLUX | ALLERGY | Ca2 | store-operated Ca2+ entry | MUTATION | PORE SUBUNIT | CRAC CHANNEL | Immunologic Deficiency Syndromes - pathology | Cell Adhesion Molecules - genetics | Frameshift Mutation | Calcium Channels - metabolism | Calcium - metabolism | Humans | Mutation, Missense | Neoplasm Proteins - metabolism | Ectodermal Dysplasia - metabolism | Transfection | Ectodermal Dysplasia - pathology | Membrane Proteins - metabolism | Neoplasm Proteins - genetics | Calcium Channels - genetics | Stromal Interaction Molecule 1 | ORAI2 Protein | Membrane Proteins - genetics | Muscular Diseases - metabolism | Stromal Interaction Molecule 2 | Muscular Diseases - pathology | Cell Adhesion Molecules - metabolism | ORAI1 Protein | Homozygote | Immunologic Deficiency Syndromes - genetics | Immunologic Deficiency Syndromes - metabolism | Ectodermal Dysplasia - genetics | Muscular Diseases - genetics | Calcium Channels - deficiency | Proteins | Cytomegalovirus | Cell growth | Plasmids | Lymphocytes | Cloning | Protein expression | Mutation | Gene expression | Patients | Age | Deoxyribonucleic acid--DNA
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 139, Issue 4, pp. 1302 - 1310.e4
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2017, Volume 141, Issue 1, pp. 322 - 328.e10
Abstract Background Rare DNA breakage-repair disorders predispose to infection and lympho-reticular malignancies. Hematopoietic cell transplantation (HCT) is... 
Allergy and Immunology | Ataxia-Telangiectasia | DNA Ligase 4 deficiency | Nijmegen Breakage syndrome | DNA repair disorders | Hematopoietic stem cell transplantation | Cernunnos-XLF deficiency
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2017, Volume 140, Issue 4, pp. 1112 - 1119
Background Myb-like, SWIRM, and MPN domains 1 (MYSM1) is a transcriptional regulator mediating histone deubiquitination. Its role in human immunity and... 
Allergy and Immunology | stem cells | hematopoiesis | rare disease | Immunodeficiency | transplantation | P53 PROTEIN | PHOSPHORYLATION | DOUBLE-STRAND BREAKS | IMMUNOLOGY | LYMPHOCYTE DIFFERENTIATION | REFERENCE VALUES | UV-RADIATION | ALLERGY | STEM-CELL MAINTENANCE | EPIGENETIC REGULATION | HISTONE H2A DEUBIQUITINASE | Genome-Wide Association Study | Humans | Cells, Cultured | Hematopoietic Stem Cell Transplantation | Genotype | DNA Damage - immunology | DNA Repair - genetics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | DNA-Binding Proteins - metabolism | Transcription Factors - metabolism | Ubiquitination | Hematopoiesis | Pedigree | Bone Marrow Diseases - immunology | Developmental Disabilities - immunology | Consanguinity | p38 Mitogen-Activated Protein Kinases - metabolism | Histones - metabolism | Immunologic Deficiency Syndromes - immunology | Sequence Deletion - genetics | Monoclonal antibodies | Codon | Analysis | Genomics | Transplantation | B cells | Nucleotide sequencing | Hematopoietic stem cells | Risk factors | DNA sequencing | Cataracts | Reactive oxygen species | Phosphorylation | p38 Protein | Transplants & implants | Transcription | Nonsense mutation | DNA damage | Genotoxicity | Stem cell transplantation | Genomes | Cognition | Kinases | Homozygosity | Phosphatase | Immunity | Blood | Gene sequencing | Proteins | Penicillin | Bone marrow | Deoxyribonucleic acid--DNA | Siblings | Stresses | Cell survival | U.V. radiation | Anemia | Stop codon | Patients | Survival | Stress | Hemopoiesis | Studies | Ultraviolet radiation | Lymphocytes B | Biopsy | Stem cells | Epigenetics | Bone | Mutation | Aberration | Leukocytes (granulocytic) | Gene mapping | Apoptosis
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2015, Volume 136, Issue 3, pp. 692 - 702.e2
Background Wiskott-Aldrich syndrome (WAS) is a severe X-linked immunodeficiency characterized by microthrombocytopenia, eczema, recurrent infections, and... 
Allergy and Immunology | Wiskott-Aldrich syndrome | primary immunodeficiency | B cell | gene therapy | lentiviral vector | RHEUMATOID-ARTHRITIS | SYSTEMIC-LUPUS-ERYTHEMATOSUS | COMPLEMENT | ADHERENCE TEST | ACTIN POLYMERIZATION | SYNDROME PROTEIN | IMMUNOLOGY | TRANSPLANTATION | PRIMARY IMMUNODEFICIENCY DISEASES | ALLERGY | ACTIVATING FACTOR | LYMPHOCYTES | Wiskott-Aldrich Syndrome Protein - genetics | Bone Marrow - immunology | Humans | Recombinant Fusion Proteins - therapeutic use | Child, Preschool | Infant | Male | Transplantation, Autologous | Gene Expression Profiling | Autoantibodies - biosynthesis | Wiskott-Aldrich Syndrome - genetics | Wiskott-Aldrich Syndrome - therapy | Hematopoietic Stem Cells - immunology | Bone Marrow - metabolism | B-Lymphocyte Subsets - immunology | Lentivirus - genetics | Wiskott-Aldrich Syndrome - pathology | Child | Immunoglobulins - biosynthesis | Gene Expression | Wiskott-Aldrich Syndrome - immunology | Transduction, Genetic | B-Lymphocyte Subsets - pathology | Hematopoietic Stem Cell Transplantation | Immunophenotyping | Hematopoietic Stem Cells - metabolism | B-Cell Activating Factor - metabolism | B-Lymphocyte Subsets - metabolism | Wiskott-Aldrich Syndrome Protein - immunology | B-Cell Activating Factor - genetics | Bone Marrow - pathology | Transplantation Conditioning | Genetic Vectors | Genetic Therapy - methods | Autoimmunity | Care and treatment | Genetic vectors | Genes | Immunodeficiency | Genetic research | Lymphomas | Transplantation | Gene therapy | Health aspects | Hematopoietic stem cells | Bone marrow | Immunoglobulins | Patients | Immune Deficiencies, Infection, and Systemic Immune Disorders | WASp, Wiskott-Aldrich syndrome protein | WAS, Wiskott-Aldrich syndrome | GT, Gene therapy | PB, Peripheral blood | IVIg, Intravenous immunoglobulin | VCN, Vector copy number | HSC, Hematopoietic stem cell | HD, Healthy donor | BAFF, B cell–activating factor | BM, Bone marrow | SDF-1α, Stromal cell–derived factor 1α
Journal Article
Journal of the American Society of Echocardiography, ISSN 0894-7317, 2013, Volume 26, Issue 4, pp. 325 - 338