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Frontiers in Immunology, ISSN 1664-3224, 2011, Volume 2, pp. 54 - 54
We report the updated classification of primary immunodeficiency diseases, compiled by the ad hoc Expert Committee of the International Union of Immunological... 
Primary immunodeficiency diseases | Primary Immunodeficiency Diseases
Journal Article
Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 12/2011, Volume 128, Issue 6, pp. 1382 - 1383
Journal Article
Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 12/2011, Volume 128, Issue 6, p. 1382
  Nonetheless, the use of serum IgM level as a biomarker was essential to recognize the existence of the X-chromosome-linked form of the disease, ultimately... 
Genotype & phenotype | Disease | Infections | Mutation | Defects
Journal Article
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 12/2011, Volume 128, Issue 6, pp. 1382 - 1383
Journal Article
Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 12/2011, Volume 128, Issue 6, pp. 1382 - 1383
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2011, Volume 128, Issue 6, pp. 1382 - 1383
Journal Article
Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 02/2013, Volume 131, Issue 2, pp. 314 - 323
The characterization of primary immunodeficiencies (PIDs) in human subjects is crucial for a better understanding of the biology of the immune response. New... 
Immune response | Classification | Immunodeficiency | Immunity
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 | Index Medicus | Abridged Index Medicus | Life Sciences | Microbiology and Parasitology | Immunology | Bacteriology | Virology
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2015, Volume 136, Issue 1, pp. 140 - 150.e7
Journal Article
Journal of clinical investigation, ISSN 0021-9738, 2016, Volume 126, Issue 11, pp. 4289 - 4302
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 6/2014, Volume 111, Issue 24, pp. 8889 - 8894
Journal Article
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 11/2016, Volume 126, Issue 11, pp. 4289 - 4302
textabstractPatients with mutations in AICDA, which encodes activation-induced cytidine deaminase (AID), display an impaired peripheral B cell tolerance. AID... 
Journal Article
The Journal of Experimental Medicine, ISSN 0022-1007, 02/2013, Volume 210, Issue 2, pp. 355 - 374
textabstractMutations in Wiskott-Aldrich syndrome (WAS) protein (WASp), a regulator of actin dynamics in hematopoietic cells, cause WAS, an X-linked primary... 
B-CELLS | MEDICINE, RESEARCH & EXPERIMENTAL | WASP GENE-MUTATIONS | SYSTEMIC-LUPUS-ERYTHEMATOSUS | PRIMARY SJOGRENS-SYNDROME | AUTOIMMUNE-DISEASES | REGULATORY T-CELLS | PERIPHERAL-BLOOD | IFN-ALPHA INDUCER | IMMUNOLOGY | IMMUNOLOGICAL SYNAPSE | CUTTING EDGE | Index Medicus
Journal Article
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