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Journal of Clinical Investigation, ISSN 0021-9738, 12/2017, Volume 127, Issue 12, pp. 4415 - 4420
Primary immunodeficiencies are often monogenic disorders characterized by vulnerability to specific infectious pathogens. Here, we performed whole-exome... 
MEDICINE, RESEARCH & EXPERIMENTAL | IMMUNITY | ACTIVATOR | INTERFERON-GAMMA | MYCOBACTERIAL DISEASE | ALPHA/BETA | MENDELIAN SUSCEPTIBILITY | CLINICAL-FEATURES | DEFICIENCY | SIGNAL TRANSDUCER | INBORN-ERRORS | Bacteremia - immunology | Genetic Diseases, Inborn - microbiology | STAT2 Transcription Factor - immunology | Humans | Genetic Diseases, Inborn - genetics | Genetic Diseases, Inborn - virology | Male | Cytomegalovirus Infections - immunology | Cytomegalovirus Infections - genetics | Bacteremia - microbiology | Streptococcal Infections - genetics | Phosphorylation - genetics | Female | Phosphorylation - immunology | Receptor, Interferon alpha-beta - genetics | Fibroblasts - microbiology | Mycobacterium Infections, Nontuberculous - immunology | Immunologic Deficiency Syndromes - immunology | Receptors, Interferon - genetics | Fibroblasts - virology | Genetic Diseases, Inborn - immunology | Viremia - genetics | Viridans Streptococci - immunology | Bacteremia - genetics | Immunologic Deficiency Syndromes - virology | STAT1 Transcription Factor - genetics | Immunologic Deficiency Syndromes - microbiology | STAT1 Transcription Factor - immunology | Cytomegalovirus - immunology | Mycobacterium abscessus - immunology | Receptor, Interferon alpha-beta - immunology | Receptors, Interferon - immunology | Viremia - virology | STAT2 Transcription Factor - genetics | Immunologic Deficiency Syndromes - genetics | Fibroblasts - immunology | Viremia - immunology | Streptococcal Infections - immunology | Mutation | Mycobacterium Infections, Nontuberculous - genetics | Virus diseases | Usage | Immunotherapy | Genetic aspects | Disease susceptibility | Research | Mutation (Biology) | Stat2 protein | Cytomegalovirus | Phosphorylation | Viremia | Immunodeficiency | Stop codon | C-Terminus | Gene deletion | Bacteremia | Nuclear transport | α-Interferon | Clonal deletion | Fibroblasts | Interferon | Codons | Stat1 protein | Viral infections | Index Medicus | Abridged Index Medicus
Journal Article
Human Mutation, ISSN 1059-7794, 10/2017, Volume 38, Issue 10, pp. 1355 - 1359
Journal Article
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