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SCIENCE, ISSN 0036-8075, 08/2018, Volume 361, Issue 6404, pp. 810 - 813
Journal Article
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
Genome Medicine, ISSN 1756-994X, 06/2019, Volume 11, Issue 1, pp. 38 - 38
Journal Article
Human Mutation, ISSN 1059-7794, 09/2012, Volume 33, Issue 9, pp. 1377 - 1387
Patients carrying two loss‐of‐function (or hypomorphic) alleles of STAT1 are vulnerable to intracellular bacterial and viral diseases. Heterozygosity for... 
osteomyelitis | dominant‐negative effect | MSMD | STAT1 | Osteomyelitis | Dominant-negative effect | dominant-negative effect | IMMUNITY | IFN-GAMMA | 1 DEFICIENCY | CLINICAL-FEATURES | CHRONIC MUCOCUTANEOUS CANDIDIASIS | INBORN-ERRORS | HYPER-IGE SYNDROME | INTERFERON-GAMMA-RECEPTOR | BACILLE CALMETTE-GUERIN | GENETICS & HEREDITY | HOST-DEFENSE | Interferon-alpha - pharmacology | Phosphorylation | Mycobacterium bovis - immunology | Cytokines - analysis | Humans | Protein Multimerization | Mycobacterium tuberculosis - immunology | Infant | Male | Tuberculosis - microbiology | Mutation, Missense | Loss of Heterozygosity | Mycobacterium tuberculosis - pathogenicity | STAT1 Transcription Factor - metabolism | Disease Susceptibility - immunology | Genes, Dominant | DNA Mutational Analysis | Interleukins - immunology | Leukocytes, Mononuclear - immunology | Female | Active Transport, Cell Nucleus | Interleukins - pharmacology | Disease Susceptibility - pathology | Child | Tuberculosis - pathology | Leukocytes, Mononuclear - drug effects | Signal Transduction | Disease Susceptibility - microbiology | STAT1 Transcription Factor - genetics | Mycobacterium tuberculosis - isolation & purification | STAT1 Transcription Factor - immunology | src Homology Domains | Tuberculosis - immunology | Tyrosine - metabolism | BCG Vaccine - adverse effects | Alleles | Interferon-gamma - pharmacology | Tyrosine | Medical colleges | Bacterial infections | Mycoses | Disease susceptibility | Biological response modifiers | Virus diseases | Stem cell research | Nuclear radiation | DNA | Stem cells | Genetics | Genetic aspects | DNA-ligand interactions | Deoxyribonucleic acid--DNA | Mutation | Index Medicus
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