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Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2013, Volume 133, Issue 4, pp. 1099 - 1108.e12
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 Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 139, Issue 2, pp. 690 - 692.e3
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2011, Volume 128, Issue 1, pp. 139 - 146
Background Cartilage-hair hypoplasia (CHH) is characterized by metaphyseal dysplasia, bone marrow failure, increased risk of malignancies, and a variable... 
Allergy and Immunology | thymus | Cartilage-hair hypoplasia | T lymphocytes | cell cycle | apoptosis | immunodeficiency | RMRP | T lymphocytes | PHENOTYPE | OMENN-SYNDROME | IMMUNOLOGY | TRANSPLANTATION | IMPAIRMENT | FEATURES | ALLERGY | MUTATIONS | RNA COMPONENT | EXPRESSION | Immunologic Deficiency Syndromes - pathology | Osteochondrodysplasias - pathology | Hair - abnormalities | Humans | Hirschsprung Disease - genetics | Child, Preschool | Infant | Male | RNA, Untranslated - genetics | Hirschsprung Disease - immunology | Young Adult | Flow Cytometry | Osteochondrodysplasias - genetics | Cell Cycle - immunology | Polymerase Chain Reaction | Female | Immunologic Deficiency Syndromes - immunology | Child | Hair - pathology | Osteochondrodysplasias - immunology | Cell Separation | Hirschsprung Disease - pathology | Genotype | Hair - immunology | Phenotype | Apoptosis - immunology | Osteochondrodysplasias - congenital | RNA, Long Noncoding | Adolescent | Immunologic Deficiency Syndromes - genetics | T-Lymphocytes - immunology | Thymus Gland - immunology | Mutation | Medical colleges | Nucleases | Care and treatment | Dysplasia | Orphans | RNA | Immunodeficiency | Transplantation | T cells | Statistics | Hematopoietic stem cells | Diseases | Cell cycle | Children | Apoptosis | Lymphocytes | Index Medicus | Abridged Index Medicus | Cell proliferation | Immune response | Data processing | Lymphocytes T | Immunity (cell-mediated) | Thymus | Cell activation | Lymphocytes B | Cell migration
Journal Article
The Journal of Allergy and Clinical Immunology: In Practice, ISSN 2213-2198, 01/2013, Volume 1, Issue 1, pp. 94 - 96
Journal Article
Journal of Allergy and Clinical Immunology: In Practice, ISSN 2213-2198, 2016, Volume 4, Issue 6, pp. 1089 - 1100
A broad spectrum of autoimmunity is now well described in patients with primary immunodeficiencies (PIDs). Management of autoimmune disease in the background... 
Internal Medicine | Allergy and Immunology | Autoimmunity | Lupus | Treatment | Vasculitis | Autoimmune enteropathy (AIE) | Inflammatory bowel disease (IBD) | Arthritis | Cytopenias | Primary immunodeficiencies (PIDs) | SYSTEMIC-LUPUS-ERYTHEMATOSUS | CHRONIC GRANULOMATOUS-DISEASE | WISKOTT-ALDRICH-SYNDROME | X-LINKED AGAMMAGLOBULINEMIA | COMMON VARIABLE IMMUNODEFICIENCY | 22Q11.2 DELETION SYNDROME | OF-FUNCTION MUTATIONS | IMMUNOLOGY | SINGLE-CENTER COHORT | ALLERGY | REGULATORY T-CELLS | STEM-CELL TRANSPLANTATION | Animals | Immunologic Deficiency Syndromes - complications | Gastrointestinal Diseases - drug therapy | Humans | Autoimmune Diseases - immunology | Gastrointestinal Diseases - etiology | Immunologic Deficiency Syndromes - drug therapy | Autoimmune Diseases - etiology | Immunologic Deficiency Syndromes - immunology | Autoimmune Diseases - drug therapy | Gastrointestinal Diseases - immunology | Antigens | Immunoglobulins | Bacterial infections | Disease | Guillain-Barre syndrome | T cell receptors | Infections | Patients | Pathology | Signal transduction | Lymphocytes | Response rates | Population | Diabetes | Steroids | Apoptosis | Neutropenia | Index Medicus | treatment | autoimmune enteropathy (AIE) | autoimmunity | arthritis | vasculitis | primary immunodeficiencies (PIDs) | inflammatory bowel disease (IBD) | lupus | cytopenias
Journal Article