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Journal Article
JOURNAL OF CLINICAL IMMUNOLOGY, ISSN 0271-9142, 10/2018, Volume 38, Issue 7, pp. 787 - 793
PurposeInborn errors of IFN--mediated immunity underlie Mendelian Susceptibility to Mycobacterial Disease (MSMD), which is characterized by an increased... 
GAMMA | INFECTIONS | DOMAIN | UNRELATED PATIENTS | IFN-GAMMA-R1 DEFICIENCY | Bacillus Calmette-Guerin vaccination | DOMINANT | CLINICAL-FEATURES | IMMUNOLOGY | IL-12 | interferon | Mendelian susceptibility to mycobacterial disease | GAIN-OF-FUNCTION | MUTATION | RECEPTOR-BETA-1 DEFICIENCY | (BCG)-osis
Journal Article
Allergology and Immunopathology (Allergologia et Immunopathologia), ISSN 0301-0546, 2019, Volume 47, Issue 5, pp. 491 - 498
AbstractBackgroundMendelian susceptibility to mycobacterial disease (MSMD) is characterized by increased susceptibility to weakly virulent mycobacteria... 
Internal Medicine | Allergy and Immunology | Vaccination side effects | Mendelian susceptibility to mycobacterial diseases | Primary immunodeficiency | IL12Rβ1
Journal Article
Microbiology and Immunology, ISSN 0385-5600, 10/2016, Volume 60, Issue 10, pp. 678 - 686
Journal Article
ALLERGOLOGIA ET IMMUNOPATHOLOGIA, ISSN 0301-0546, 09/2019, Volume 47, Issue 5, pp. 491 - 498
Background: Mendelian susceptibility to mycobacterial disease (MSMD) is characterized by increased susceptibility to weakly virulent mycobacteria (Bacillus... 
NATURAL-KILLER | TUBERCULOSIS | Mendelian susceptibility to mycobacterial diseases | DISORDERS | IMMUNOLOGY | Primary immunodeficiency | INBORN-ERRORS | IL12R beta 1 | INTERLEUKIN-12/23 | ALLERGY | IL-12R-BETA-1 DEFICIENCY | RECEPTOR-BETA-1 DEFICIENCY | INFECTION | GAMMA-MEDIATED IMMUNITY | ASSOCIATION | Vaccination side effects
Journal Article
Journal of Clinical Immunology, ISSN 0271-9142, 1/2014, Volume 34, Issue 1, pp. 84 - 93
Journal Article
Immunobiology, ISSN 0171-2985, 2012, Volume 218, Issue 5, pp. 762 - 771
Abstract To recognize patients with inhibitory and neutralizing auto-antibodies to interferon-γ (AutoAbs-IFN-γ) presenting with the sporadic phenotype of... 
Allergy and Immunology | Advanced Basic Science | Bacille Calmette–Guerin infection (BCGitis) | Autoantibodies to IFN-γ (AutoAbs-IFN-γ) | Mendelian Susceptibility to Mycobacterial Disease (MSMD) | Primary immunodeficiency diseases (PIDs) | IL-12/23-IFN-γ circuit | Bacille Calmette-Guerin infection (BCGitis) | IL-12/23-IFN-gamma circuit | AVIUM COMPLEX | TAIWAN | CHRONIC GRANULOMATOUS-DISEASE | IFN-GAMMA | CLINICAL-FEATURES | IMMUNOLOGY | Disease (MSMD) | DEFICIENCY | Mendelian Susceptibility to Mycobacterial | PRIMARY IMMUNODEFICIENCY DISEASES | INFECTION | CELL IMMUNODEFICIENCY | Autoantibodies to IFN-gamma (AutoAbs-IFN-gamma) | PENICILLIUM-MARNEFFEI | Mycobacterium bovis - immunology | Humans | Osteomyelitis - genetics | Salmonella Infections - genetics | Salmonella Infections - immunology | Salmonella Infections - diagnosis | Autoantibodies - biosynthesis | Mycobacterium Infections, Nontuberculous - diagnosis | Signal Transduction - immunology | Antibodies, Neutralizing - immunology | Interferon-gamma - antagonists & inhibitors | Mycobacterium Infections, Nontuberculous - immunology | Cytokines - immunology | Diagnosis, Differential | Gene Expression Regulation - immunology | Jurkat Cells | Mycobacterium Infections, Nontuberculous - ethnology | Genotype | Salmonella Infections - ethnology | STAT1 Transcription Factor - genetics | Osteomyelitis - immunology | Osteomyelitis - ethnology | STAT1 Transcription Factor - immunology | Asian Continental Ancestry Group | Autoantibodies - immunology | Phenotype | Osteomyelitis - diagnosis | Antibodies, Neutralizing - biosynthesis | Interferon-gamma - immunology | Age of Onset | Mycobacterium Infections, Nontuberculous - genetics | Chronic Disease | Cytokines - biosynthesis | Interferon-gamma - blood
Journal Article
Iranian Journal of Public Health, ISSN 2251-6085, 2016, Volume 45, Issue 2, pp. 249 - 254
Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare inheritance syndrome, characterized by a disseminated infection with mycobacterium in... 
Mendelian | Mycobacterium | Interleukin 12 | Interfron-gamma | IL-12Rβ1 Deficiency | Case Report
Journal Article
Iranian Journal of Public Health, ISSN 2251-6085, 03/2016, Volume 45, Issue 3, pp. 370 - 375
Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare inheritance syndrome, characterized by a disseminated infection with mycobacterium in... 
Mendelian | Mycobacterium | Interleukin 12 | Interfron-gamma | IL-12Rβ1 Deficiency | Case Report
Journal Article
Journal Article
INDIAN JOURNAL OF PEDIATRICS, ISSN 0019-5456, 09/2013, Volume 80, Issue 9, pp. 781 - 782
Mendelian Susceptibility to Mycobacterial Disease (MSMD) is a relatively new term that describes a spectrum of inherited defects in the IL-12/23 and IFN- gamma... 
IL12R beta 1 | PEDIATRICS | XDRTB | Mendelian susceptibility to mycobacterial disease
Journal Article
FRONTIERS IN IMMUNOLOGY, ISSN 1664-3224, 08/2019, Volume 10, p. 1964
Journal Article
The Journal of allergy and clinical immunology, ISSN 0091-6749, 7/2017, Volume 140, Issue 1, pp. 232 - 241
Reference database based on the alanine-scanning assay is a useful tool for evaluating unknown variations in STAT1. Gain-of-function alanine mutants occurred... 
alanine-scanning | mendelian susceptibility to mycobacterial disease | STAT1 | chronic mucocutaneous candidiasis | reference database
Journal Article
HUMAN MUTATION, ISSN 1059-7794, 10/2013, Volume 34, Issue 10, pp. 1329 - 1339
IL-12R1 deficiency is an autosomal recessive disorder characterized by predisposition to recurrent and/or severe infections caused by otherwise poorly... 
MYCOBACTERIAL DISEASE | RECEPTOR BETA-1 DEFICIENCY | SUSCEPTIBILITY | INTERLEUKIN-12 | Mendelian susceptibility to mycobacterial disease | IL-12 RECEPTOR | POLYMORPHISMS | PATHWAY GENES | IL-12R1 deficiency | GENETICS & HEREDITY | PULMONARY TUBERCULOSIS | IL12RB1 | T-CELLS | GENOME-WIDE ASSOCIATION
Journal Article