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1. Full Text Severe infectious diseases of childhood as monogenic inborn errors of immunity
by Jean-Laurent Casanova
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
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2. Full Text Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) and IPEX-related disorders: An evolving web of heritable autoimmune diseases
by Verbsky, James W and Chatila, Talal A
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
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3. Full Text Novel signal transducer and activator of transcription 1 mutation disrupts small ubiquitin-related modifier conjugation causing gain of function
by Sampaio, Elizabeth P and Ding, Li and Rose, Stacey R and Cruz, Phillip and Hsu, Amy P and Kashyap, Anuj and Rosen, Lindsey B and Smelkinson, Margery and Tavella, Tatyana A and Ferre, Elise M.N and Wierman, Meredith K and Zerbe, Christa S and Lionakis, Michail S and Holland, Steven M
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
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4. Full Text MCPIP1 Endoribonuclease Activity Negatively Regulates Interleukin-17-Mediated Signaling and Inflammation
by Garg, Abhishek V and Amatya, Nilesh and Chen, Kong and Cruz, J. Agustin and Grover, Prerna and Whibley, Natasha and Conti, Heather R and Hernandez Mir, Gerard and Sirakova, Tatiana and Childs, Erin C and Smithgall, Thomas E and Biswas, Partha S and Kolls, Jay K and McGeachy, Mandy J and Kolattukudy, Pappachan E and Gaffen, Sarah L
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
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5. Full Text Gain of function mutations in CgPDR1 of Candida glabrata not only mediate antifungal resistance but also enhance virulence
by Ferrari, Sélène and Ischer, Françoise and Calabrese, David and Posteraro, Brunella and Sanguinetti, Maurizio and Fadda, Giovanni and Rohde, Bettina and Bauser, Christopher and Bader, Oliver and Sanglard, Dominique
PLoS Pathogens, ISSN 1553-7366, 01/2009, Volume 5, Issue 1, p. e1000268
CgPdr1p is a Candida glabrata Zn(2)-Cys(6) transcription factor involved in the regulation of the ABC-transporter genes CgCDR1, CgCDR2, and CgSNQ2, which are... 
ANTIBIOTIC-RESISTANCE | MICROBIOLOGY | DISSEMINATED INFECTION | DRUG-RESISTANCE | AMPHOTERICIN-B | FLUCONAZOLE RESISTANCE | VIROLOGY | TRANSPORTER GENE | AZOLE RESISTANCE | CRYPTOCOCCUS-NEOFORMANS | MULTIDRUG-RESISTANCE | TRANSCRIPTION FACTOR | PARASITOLOGY | Candidiasis - genetics | Gene Expression Regulation, Fungal | Virulence - drug effects | Candida glabrata - pathogenicity | Fluconazole - pharmacology | Humans | Drug Resistance, Fungal - genetics | Transcription Factors - genetics | Candidiasis - microbiology | Animals | ATP-Binding Cassette Transporters - genetics | Virulence - genetics | Female | Mice | Mice, Inbred BALB C | Mutation | Candida glabrata - genetics | Amino Acid Substitution | Physiological aspects | Drug resistance in microorganisms | Genetic aspects | Research | DNA binding proteins | Candida | Proteins | Statistical analysis | Yeast | Hyperactivity | Mortality | Infections | Experiments
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6. Full Text Mendelian susceptibility to mycobacterial disease: Genetic, immunological, and clinical features of inborn errors of IFN-γ immunity
by Bustamante, Jacinta and Boisson-Dupuis, Stéphanie and Abel, Laurent and Casanova, Jean-Laurent
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
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7. Full Text Functional Genomic Analysis of Candida albicans Adherence Reveals a Key Role for the Arp2/3 Complex in Cell Wall Remodelling and Biofilm Formation
by Lee, Jason A and Robbins, Nicole and Xie, Jinglin L and Ketela, Troy and Cowen, Leah E
PLoS Genetics, ISSN 1553-7390, 11/2016, Volume 12, Issue 11, p. e1006452
Fungal biofilms are complex, structured communities that can form on surfaces such as catheters and other indwelling medical devices. Biofilms are of... 
ADHESION | INFECTIONS | FUNGAL PATHOGEN | BUDDING YEAST | GENETICS & HEREDITY | HYDROPHOBICITY | ENDOCYTOSIS | INHIBITOR | SACCHAROMYCES-CEREVISIAE | DENTURE ACRYLIC SURFACES | DISCOVERY | Biofilms - drug effects | Candida albicans - pathogenicity | Candidiasis - genetics | Gene Expression Regulation, Fungal | Cell Adhesion - genetics | Fungal Proteins - biosynthesis | Stress, Physiological - genetics | Genomics | Humans | Biofilms - growth & development | Cell Wall - genetics | Actin-Related Protein 2-3 Complex - genetics | Drug Resistance, Fungal - genetics | Fungal Proteins - genetics | Candida albicans - growth & development | Candidiasis - microbiology | Candida albicans - genetics | Actin-Related Protein 2-3 Complex - drug effects | Metabolic Networks and Pathways - genetics | Candida albicans - drug effects | Genome, Fungal | Candidiasis - drug therapy | Endocytosis - genetics | Actin Cytoskeleton - genetics | Candida albicans | Genetic aspects | Gene expression | Observations | Plant cell walls | Library collections | Medical equipment | Pathogens | Funding | Mortality | Colleges & universities | Genomes | Academic libraries | Microorganisms | Biofilms | Genetics | Extracellular matrix | Nosocomial infections
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8. Full Text Transcriptional regulation of carbohydrate metabolism in the human pathogen Candida albicans
by Askew, Christopher and Sellam, Adnane and Epp, Elias and Hogues, Hervé and Mullick, Alaka and Nantel, André and Whiteway, Malcolm
PLoS Pathogens, ISSN 1553-7366, 10/2009, Volume 5, Issue 10, pp. e1000612 - e1000612
Glycolysis is a metabolic pathway that is central to the assimilation of carbon for either respiration or fermentation and therefore is critical for the growth... 
ACTIVATION | MICROBIOLOGY | DNA-BINDING PROTEIN | VIRULENCE | GENOME | YEAST SACCHAROMYCES-CEREVISIAE | VIROLOGY | CDNA MICROARRAYS | GLUCOSE | GCR1 | KLUYVEROMYCES-LACTIS | PARASITOLOGY | GLYCOLYTIC GENE-EXPRESSION | Candida albicans - pathogenicity | Candidiasis - genetics | Gene Expression Regulation, Fungal | Saccharomyces cerevisiae - genetics | Humans | Virulence | Carbohydrate Metabolism | Candida albicans - metabolism | Saccharomyces cerevisiae Proteins - genetics | Transcription Factors - genetics | Candida albicans - growth & development | DNA-Binding Proteins - genetics | Oxygen - metabolism | Citric Acid Cycle | Candida albicans - genetics | Glycolysis - genetics | Saccharomyces cerevisiae - metabolism | Candidiasis - metabolism | Animals | Fermentation - genetics | Adenosine Triphosphate - metabolism | Models, Animal | Transcription, Genetic | Mice | Candida albicans | Physiological aspects | Carbohydrate metabolism | Genetic aspects | Research | Genetic regulation | Enzymes | Medical research | Microbiology | Metabolites | Glucose | Metabolism | Gene expression | Bacteriology
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9. Full Text Human Dectin-1 Deficiency and Mucocutaneous Fungal Infections
by Ferwerda, Gerben and Ferwerda, Bart and Plantinga, Theo S and Willment, Janet A and van Spriel, Annemiek B and Venselaar, Hanka and