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Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 12/2015, Volume 112, Issue 51, pp. E7128 - E7137
This paper reviews the developments that have occurred in the field of human genetics of infectious diseases from the second half of the 20th century onward.... 
Pediatrics | Immunology | Infectious diseases | Human genetics | Primary immunodeficiency | human genetics | LINKED LYMPHOPROLIFERATIVE SYNDROME | CALMETTE-GUERIN INFECTION | RECEPTOR BETA-1 DEFICIENCY | MULTIDISCIPLINARY SCIENCES | infectious diseases | ANHIDROTIC ECTODERMAL DYSPLASIA | T-CELL IMMUNODEFICIENCY | CHRONIC MUCOCUTANEOUS CANDIDIASIS | PRIMARY IMMUNODEFICIENCY DISEASES | PYOGENIC BACTERIAL-INFECTIONS | pediatrics | primary immunodeficiency | immunology | HERPES-SIMPLEX ENCEPHALITIS | INHERITED CARD9 DEFICIENCY | Encephalitis, Herpes Simplex - immunology | Humans | Genetic Diseases, Inborn - genetics | Lymphoproliferative Disorders - immunology | Mycobacterium Infections - immunology | Young Adult | Pneumococcal Infections - immunology | Mycobacterium Infections - genetics | Pneumococcal Infections - genetics | Complement System Proteins - genetics | Encephalitis, Herpes Simplex - genetics | Epidermodysplasia Verruciformis - immunology | Interferon-gamma - genetics | Immunologic Deficiency Syndromes - immunology | Child | Genetic Predisposition to Disease | Neisseria - immunology | Tinea - immunology | Infection - immunology | Candidiasis, Chronic Mucocutaneous - genetics | Malaria - immunology | Candidiasis, Chronic Mucocutaneous - immunology | Genetic Diseases, Inborn - immunology | Tinea - genetics | Epidermodysplasia Verruciformis - genetics | Lymphoproliferative Disorders - genetics | Infection - genetics | Models, Immunological | Neisseria - pathogenicity | Influenza, Human - genetics | Interferon-gamma - immunology | Adolescent | Immunologic Deficiency Syndromes - genetics | Models, Genetic | Malaria - genetics | Influenza, Human - immunology | Development and progression | Genetic aspects | Disease susceptibility | Immune response | Communicable diseases | Biological Sciences | PNAS Plus
Journal Article
Current Opinion in Pediatrics, ISSN 1040-8703, 12/2013, Volume 25, Issue 6, pp. 708 - 714
Purpose of reviewTo summarize recent progress in our understanding of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) and IPEX-related... 
ITCH | autoimmunity | STAT1 | T regulatory cells | STAT5 | CD25 | FOXP3 | tolerance | TGF-BETA | GROWTH-HORMONE INSENSITIVITY | STAT5B MUTATION | CHRONIC MUCOCUTANEOUS CANDIDIASIS | CUTTING EDGE | INTESTINAL INFLAMMATION | ALPHA-CHAIN | TRANSCRIPTION FACTOR FOXP3 | REGULATORY T-CELLS | PEDIATRICS | SCURFY MOUSE MUTANT | Forkhead Transcription Factors - immunology | Immunologic Deficiency Syndromes - pathology | Humans | STAT5 Transcription Factor - immunology | Autoimmunity - genetics | Diabetes Mellitus, Type 1 - congenital | Male | Intestinal Diseases - immunology | Diarrhea - pathology | T-Lymphocytes, Regulatory - immunology | STAT5 Transcription Factor - genetics | Ubiquitin-Protein Ligases - immunology | Interleukin-2 Receptor alpha Subunit - genetics | Autoimmunity - immunology | Diarrhea - immunology | Female | Genetic Diseases, X-Linked - genetics | Polyendocrinopathies, Autoimmune - genetics | Immunologic Deficiency Syndromes - immunology | Interleukin-2 Receptor alpha Subunit - immunology | Genetic Predisposition to Disease | Intestinal Diseases - genetics | Repressor Proteins - genetics | Polyendocrinopathies, Autoimmune - pathology | Forkhead Transcription Factors - genetics | Mutation - genetics | Polyendocrinopathies, Autoimmune - immunology | Genetic Diseases, X-Linked - immunology | Immune System Diseases - congenital | Autoantibodies - immunology | Diarrhea - genetics | Repressor Proteins - immunology | Genetic Diseases, X-Linked - pathology | Immunologic Deficiency Syndromes - genetics | Ubiquitin-Protein Ligases - genetics | Intestinal Diseases - pathology | Tolerance
Journal Article
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 05/2018, Volume 141, Issue 5, pp. 1844 - 1853.e2
Sumoylation is a posttranslational reversible modification of cellular proteins through the conjugation of small ubiquitin-related modifier (SUMO) and... 
Signal transducer and activator of transcription 1 | IFN-γ | sumoylation | small ubiquitin-related modifier | gain of function | Rhodococcus species infection | MOLECULAR-DYNAMICS | OF-FUNCTION MUTATIONS | IMMUNOLOGY | CHRONIC MUCOCUTANEOUS CANDIDIASIS | SOLUBILITY | IFN-gamma | ALLERGY | STAT1 MUTATIONS | INFECTION | SUMO-1 CONJUGATION | PARACRYSTALS | I-TASSER | Cell Line | Sumoylation - genetics | Transcriptional Activation - genetics | Gene Expression - genetics | Candidiasis, Chronic Mucocutaneous - genetics | Gain of Function Mutation - immunology | Humans | Cercopithecus aethiops | Ubiquitin - genetics | Mutation - genetics | STAT1 Transcription Factor - genetics | Esophageal Squamous Cell Carcinoma - genetics | Phosphorylation - genetics | Animals | Transfection - methods | Esophageal Neoplasms - genetics | SUMO-1 Protein - genetics | Transcription, Genetic - genetics | COS Cells | Circuit components | Proteins | Genetic aspects | Genetic transcription | Proteases | Analysis | Ubiquitin | Phosphorylation | Candidiasis | Immunoprecipitation | Disease | Transcription | Laboratories | Chronic infection | Immunoblotting | Rhodococcus | Kinases | Phosphatase | Experiments | SUMO protein | Signal transduction | Transfection | Stat1 protein | Deoxyribonucleic acid--DNA | Squamous cell carcinoma | Cytokines | Chronic mucocutaneous candidiasis | Hypothyroidism | Gene expression | Patients | Molecular chains | Mutants | Esophagus | γ-Interferon | Cell lines | Mutation | Conjugation | Scabies
Journal Article
Immunity, ISSN 1074-7613, 09/2015, Volume 43, Issue 3, pp. 475 - 487
Interleukin-17 (IL-17) induces pathology in autoimmunity and infections; therefore, constraint of this pathway is an essential component of its regulation. We... 
negative regulation | Regnase-1 | fungal immunity | autoimmunity | signal transduction | IL-17 | Autoimmunity | Signal transduction | Fungal immunity | Negative regulation | EXPERIMENTAL AUTOIMMUNE ENCEPHALOMYELITIS | IL-17 RECEPTOR | TARGET GENES | CANDIDA-ALBICANS | C/EBP-BETA | GENE-EXPRESSION | HOST-DEFENSE | NECROSIS-FACTOR-ALPHA | MESSENGER-RNA STABILITY | T-CELL | IMMUNOLOGY | Candidiasis - genetics | Oncogene Proteins - genetics | Humans | Encephalomyelitis, Autoimmune, Experimental - immunology | Immunoblotting | Male | Receptors, Interleukin-17 - genetics | Ribonucleases - metabolism | Host-Pathogen Interactions - immunology | Inflammation - metabolism | Lipocalins - genetics | Adaptor Proteins, Signal Transducing - immunology | Pneumonia - immunology | Candida albicans - physiology | Encephalomyelitis, Autoimmune, Experimental - genetics | Receptors, Interleukin-17 - metabolism | Interleukin-6 - metabolism | Pneumonia - genetics | Interleukin-6 - genetics | Oncogene Proteins - metabolism | Signal Transduction - genetics | Candida albicans - immunology | Reverse Transcriptase Polymerase Chain Reaction | Mice, Knockout | Interleukin-17 - metabolism | Lipocalin-2 | Lipocalins - immunology | Interleukin-6 - immunology | Pneumonia - metabolism | Ribonucleases - genetics | Encephalomyelitis, Autoimmune, Experimental - metabolism | Receptors, Interleukin-17 - immunology | Interleukin-17 - immunology | Acute-Phase Proteins - genetics | Candidiasis - microbiology | Signal Transduction - immunology | HEK293 Cells | Female | Candidiasis - immunology | Nuclear Proteins - genetics | Oncogene Proteins - immunology | Lipocalins - metabolism | Cell Line | Acute-Phase Proteins - metabolism | Mice, Inbred C57BL | Cells, Cultured | Nuclear Proteins - metabolism | Inflammation - immunology | Nuclear Proteins - immunology | Animals | Ribonucleases - immunology | Adaptor Proteins, Signal Transducing - genetics | Inflammation - genetics | Adaptor Proteins, Signal Transducing - metabolism | Acute-Phase Proteins - immunology | Medical colleges | Nucleases | Interleukins | RNA | Cellular signal transduction | Inflammation | Proteins | Cytokines | Rodents | Fibroblasts | Infections | Kinases | Laboratory animals | Gene expression | Experiments
Journal Article
Journal Article
Seminars in Immunology, ISSN 1044-5323, 2014, Volume 26, Issue 6, pp. 454 - 470
Abstract Mendelian susceptibility to mycobacterial disease (MSMD) is a rare condition characterized by predisposition to clinical disease caused by weakly... 
Allergy and Immunology | IFN-γ | Tuberculosis | BCG | ISG15 | Mycobacteriosis | IL-12 | Primary immunodeficiency | CHRONIC MULTIFOCAL OSTEOMYELITIS | INHERITED INTERLEUKIN-12 DEFICIENCY | FUNCTION STAT1 MUTATIONS | RECEPTOR BETA-1 DEFICIENCY | CHRONIC GRANULOMATOUS-DISEASE | RECESSIVE IFN-GAMMA-R1 DEFICIENCY | IMMUNOLOGY | CHRONIC MUCOCUTANEOUS CANDIDIASIS | AVIUM COMPLEX INFECTION | IFN-gamma | BACILLE CALMETTE-GUERIN | STEM-CELL TRANSPLANTATION | Candidiasis - genetics | Tuberculosis, Pulmonary - microbiology | Coinfection | Metabolism, Inborn Errors - microbiology | Humans | Salmonella Infections - genetics | Immunity, Innate - genetics | Mycobacterium tuberculosis - immunology | Salmonella Infections - immunology | Candidiasis - microbiology | Tuberculosis, Pulmonary - genetics | Host-Pathogen Interactions - immunology | Interferon-gamma - genetics | Candidiasis - immunology | Candidiasis - pathology | Severity of Illness Index | Salmonella Infections - pathology | Genetic Predisposition to Disease | Genotype | Tuberculosis, Pulmonary - pathology | Metabolism, Inborn Errors - genetics | Genetic Heterogeneity | Metabolism, Inborn Errors - immunology | Phenotype | Tuberculosis, Pulmonary - immunology | Host-Pathogen Interactions - genetics | Interferon-gamma - immunology | Salmonella Infections - microbiology | Metabolism, Inborn Errors - pathology | tuberculosis | primary immunodeficiency | mycobacteriosis
Journal Article
PLoS Genetics, ISSN 1553-7390, 11/2016, Volume 12, Issue 11, p. e1006452
Journal Article
Journal Article