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Nature: international weekly journal of science, ISSN 0028-0836, 01/2014, Volume 510, Issue 7504, pp. 235 - 240
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2015, Volume 135, Issue 6, pp. 1578 - 1588.e5
Background PRKDC encodes for DNA-dependent protein kinase catalytic subunit (DNA-PKcs), a kinase that forms part of a complex (DNA-dependent protein kinase... 
Allergy and Immunology | autoimmunity | PRKDC | DNA-dependent protein kinase catalytic subunit | Autoimmune regulator | VDJ recombination | severe combined immunodeficiency | tolerance | recombination-activating gene | AUTOANTIBODIES | DEFECTS | HYPEREOSINOPHILIA OMENNS SYNDROME | IMMUNOLOGY | DEFICIENCY | RESPONSES | THYMUS | CALCIUM-SENSING RECEPTOR | ALLERGY | DISEASE | T-CELLS | Th1 Cells - pathology | Immunologic Deficiency Syndromes - pathology | Granuloma - metabolism | Humans | Autoimmunity - genetics | Male | Th2 Cells - immunology | Autoantibodies - biosynthesis | Th1 Cells - immunology | Th1 Cells - metabolism | Young Adult | DNA End-Joining Repair - immunology | DNA-Activated Protein Kinase - genetics | Nuclear Proteins - deficiency | Female | V(D)J Recombination - immunology | B-Lymphocytes - pathology | Immunologic Deficiency Syndromes - immunology | Nuclear Proteins - genetics | Transcription Factors - immunology | DNA-Activated Protein Kinase - deficiency | B-Lymphocytes - metabolism | Th2 Cells - pathology | Skin Neoplasms - pathology | Granuloma - genetics | Skin Neoplasms - immunology | Gene Expression Regulation | Immune Tolerance | Transcription Factors - genetics | Nuclear Proteins - immunology | Th2 Cells - metabolism | Skin Neoplasms - metabolism | Granuloma - pathology | Animals | B-Lymphocytes - immunology | Skin Neoplasms - genetics | Adolescent | Immunologic Deficiency Syndromes - genetics | Immunologic Deficiency Syndromes - metabolism | Granuloma - immunology | Mice | Mutation | DNA-Activated Protein Kinase - immunology | Autoimmunity | Genetic research | Genetic aspects | T cells | Immunodeficiency | T cell receptors | Kinases | Genes | Immune system | Life Sciences | Microbiology and Parasitology | Immunology | Bacteriology | Virology
Journal Article
Journal Article
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 08/2018, Volume 142, Issue 2, pp. 699 - 702.e12
IKAROS function is conserved across species, with Kuehn et al3 identifying novel heterozygous IKZF1 mutations as the cause of an autosomal-dominant form of... 
B-CELLS | MUTATIONS | IMMUNOLOGY | ALLERGY | EXPRESSION | Lupus | Anticoagulants | Immunoglobulins | Ikaros protein | Gene expression | Hepatitis | Immunology | Lymphocytes | Transgenic animals | Genetic testing | Mutation | Deoxyribonucleic acid--DNA | Age | Life Sciences | Microbiology and Parasitology | Bacteriology | Virology | systemic lupus erythematosus | IKZF1 | B cells | autoimmunity | IKAROS | CD22
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
The American Journal of Human Genetics, ISSN 0002-9297, 06/2011, Volume 88, Issue 6, pp. 796 - 804
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2014, Volume 134, Issue 1, pp. 135 - 144.e7
Background Individuals with genetic defects in CD40 ligand (CD40L) or B-cell antigen receptor coreceptor molecules CD19 and CD81 suffer from an antibody... 
Allergy and Immunology | CD40L | autoreactivity | somatic hypermutation | selection | immunoglobulin | CD19 | REPERTOIRE | CYTIDINE DEAMINASE AID | HUMAN B-CELLS | IMMUNOLOGY | ALLERGY | CLASS-SWITCH RECOMBINATION | MICE | MUTATIONS | DNA-POLYMERASE-ETA | GENE HYPERMUTATION | Immunologic Deficiency Syndromes - pathology | Cytidine Deaminase - immunology | Humans | Middle Aged | Immunoglobulin A - genetics | Child, Preschool | Infant | Male | Antigens, CD19 - genetics | CD40 Ligand - immunology | Flow Cytometry | Immunoglobulin G - immunology | Adult | B-Lymphocyte Subsets - immunology | Female | Immunologic Deficiency Syndromes - immunology | Child | Immunoglobulin Class Switching | Antigens, CD19 - immunology | B-Lymphocyte Subsets - pathology | CD40 Ligand - deficiency | Signal Transduction | Lymphocyte Activation | Cytidine Deaminase - genetics | Gene Expression Regulation | Immunophenotyping | Immunoglobulin G - genetics | Uracil-DNA Glycosidase - immunology | B-Lymphocyte Subsets - metabolism | CD40 Ligand - genetics | Immunoglobulin A - immunology | DNA Repair - immunology | Immunologic Deficiency Syndromes - genetics | Lymphocyte Count | Immunologic Memory | Mutation | Uracil-DNA Glycosidase - genetics | Viral antibodies | Antibodies | Children | B cells | Health aspects | Antigens | Immunoglobulins | Immune system
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2014, Volume 133, Issue 4, pp. 1109 - 1115.e14
Journal Article