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1. Full Text Mycobacterial Disease and Impaired IFN-γ Immunity in Humans with Inherited ISG15 Deficiency
by Dusan Bogunovic and Minji Byun and Larissa A. Durfee and Avinash Abhyankar and Ozden Sanal and Davood Mansouri and Sandra Salem and Irena Radovanovic and Audrey V. Grant and Parisa Adimi and Nahal Mansouri and Satoshi Okada and Vanessa L. Bryant and Xiao-Fei Kong and Alexandra Kreins and Marcela Moncada Velez and Bertrand Boisson and Soheila Khalilzadeh and Ugur Ozcelik and Ilad Alavi Darazam and John W. Schoggins and Charles M. Rice and Saleh Al-Muhsen and Marcel Behr and Guillaume Vogt and Anne Puel and Jacinta Bustamante and Philippe Gros and Jon M. Huibregtse and Laurent Abel and Stéphanie Boisson-Dupuis and Jean-Laurent Casanova
Science (American Association for the Advancement of Science), ISSN 0036-8075, 9/2012, Volume 337, Issue 6102, pp. 1684 - 1688
Infectious diseases | Memory interference | Secretion | REPORTS | Alleles | Cell lines | Fibroblasts | Infections | Leukocytes | Natural killer cells | Immunity | Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Analytical, structural and metabolic biochemistry | Molecular and cellular biology | Ubiquitins - immunology | Virus Diseases - blood | Virus Diseases - immunology | Ubiquitins - genetics | Humans | Male | Antibodies, Viral - blood | Mycobacterium Infections - blood | Mycobacterium Infections - immunology | Animals | Pedigree | Interferon-gamma - immunology | Mycobacterium Infections - genetics | Interleukin-12 - immunology | Killer Cells, Natural - immunology | Female | T-Lymphocytes - immunology | Mice | Cytokines - genetics | Granulocytes - immunology | Cytokines - immunology | Index Medicus | Human | Mutations | Tuberculosis | Cytokines | Bacteria | Attenuation | Vaccines
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2. Full Text Refractory Disseminated Coccidioidomycosis and Mycobacteriosis in Interferon-γ Receptor 1 Deficiency
by Vinh, Donald C and Masannat, Fares and Dzioba, Robert B and Galgiani, John N and Holland, Steven M
Clinical infectious diseases, ISSN 1058-4838, 9/2009, Volume 49, Issue 6, pp. e62 - e65
Infectious Diseases | Immunology | Life Sciences & Biomedicine | Microbiology | Science & Technology | Interleukin-12 - genetics | Humans | Drug Resistance, Bacterial | Male | Interferon-gamma - metabolism | Mycobacterium Infections - immunology | Antifungal Agents - therapeutic use | Young Adult | Anti-Bacterial Agents - therapeutic use | Genes, Dominant | Mycobacterium Infections - genetics | Treatment Failure | Coccidioidomycosis - drug therapy | Interferon-gamma - genetics | Drug Resistance, Fungal | Receptors, Interferon - genetics | Antifungal Agents - pharmacology | Genetic Predisposition to Disease - genetics | Receptors, Interferon - deficiency | Interleukin-12 - metabolism | Mycobacterium Infections - drug therapy | Coccidioidomycosis - genetics | Anti-Bacterial Agents - pharmacology | Immunocompromised Host | Mutation | Coccidioidomycosis - immunology | Index Medicus
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3. Full Text Lymphocyte adaptor protein LNK deficiency exacerbates hypertension and end-organ inflammation
by Saleh, Mohamed A and McMaster, William G and Wu, Jing and Norlander, Allison E and Funt, Samuel A and Thabet, Salim R and Kirabo, Annet and Xiao, Liang and Chen, Wei and Itani, Hana A and Michell, Danielle and Huan, Tianxiao and Zhang, Yahua and Takaki, Satoshi and Titze, Jens and Levy, Daniel and Harrison, David G and Madhur, Meena S
The Journal of clinical investigation, ISSN 0021-9738, 03/2015, Volume 125, Issue 3, pp. 1189 - 1202
Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Chemotaxis, Leukocyte | Kidney - pathology | Oxidative Stress | Nephritis - genetics | Mice, Inbred C57BL | Vasculitis - pathology | Cells, Cultured | Kidney - immunology | Hypertension - immunology | Nephritis - pathology | Interferon-gamma - metabolism | Mice, Knockout | Vasculitis - immunology | Intracellular Signaling Peptides and Proteins - deficiency | Vasculitis - genetics | Animals | Nephritis - immunology | T-Lymphocytes - immunology | Hypertension - genetics | Intracellular Signaling Peptides and Proteins - genetics | Hypertension | Development and progression | Inflammation | Studies | Oxidative stress | Flow cytometry | Heart attacks | Kidneys | Lymphocytes | Rodents | Cloning | Laboratory animals | Index Medicus | Abridged Index Medicus
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4. Full Text Interferon-γ–Induced Unfolded Protein Response in Conjunctival Goblet Cells as a Cause of Mucin Deficiency in Sjögren Syndrome
by Coursey, Terry G and Tukler Henriksson, Johanna and Barbosa, Flavia L and de Paiva, Cintia S and Pflugfelder, Stephen C
The American journal of pathology, ISSN 0002-9440, 2016, Volume 186, Issue 6, pp. 1547 - 1558
Pathology | Life Sciences & Biomedicine | Science & Technology | Mucins - deficiency | Humans | Mice, Inbred C57BL | Cells, Cultured | Immunoblotting | Interferon-gamma - metabolism | Sjogren's Syndrome - metabolism | Goblet Cells - metabolism | Blotting, Western | Mice, Knockout | Conjunctiva - metabolism | Animals | Fluorescent Antibody Technique | Mice | Real-Time Polymerase Chain Reaction | Unfolded Protein Response - physiology | Index Medicus | Abridged Index Medicus | Regular
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5. Full Text Interferon-γ –Receptor Deficiency in an Infant with Fatal Bacille Calmette–Guérin Infection
by Jouanguy, Emmanuelle and Altare, Frédéric and Lamhamedi, Salma and Revy, Patrick and Emile, Jean-François and Newport, Melanie and Levin, Michael and Blanche, Stéphane and Seboun, Eric and Fischer, Alain and Casanova, Jean-Laurent
The New England journal of medicine, ISSN 0028-4793, 12/1996, Volume 335, Issue 26, pp. 1956 - 1962
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Biological and medical sciences | Infectious diseases | Medical sciences | Bacterial diseases | Human bacterial diseases | Tuberculosis and atypical mycobacterial infections | Frameshift Mutation | Mycobacterium bovis | Receptors, Interferon - deficiency | Humans | Tuberculosis - etiology | Infant | Antigens, CD - genetics | Pedigree | BCG Vaccine - adverse effects | Base Sequence | Fatal Outcome | Female | Receptors, Interferon - genetics | Case studies | Cell receptors | Gene mutations | BCG vaccines | Adverse and side effects | Mycobacterial infections | Genetic aspects | Health aspects | Interferon gamma | Index Medicus | Abridged Index Medicus
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6. Full Text Herpes Simplex Virus Encephalitis in Human UNC-93B Deficiency
by Armanda Casrouge and Shen-Ying Zhang and Céline Eidenschenk and Emmanuelle Jouanguy and Anne Puel and Kun Yang and Alexandre Alcais and Capucine Picard and Nora Mahfoufi and Nathalie Nicolas and Lazaro Lorenzo and Sabine Plancoulaine and Brigitte Sénéchal and Frédéric Geissmann and Koichi Tabeta and Kasper Hoebe and Xin Du and Richard L. Miller and Bénédicte Héron and Cyril Mignot and Thierry Billette de Villemeur and Pierre Lebon and Olivier Dulac and Flore Rozenberg and Bruce Beutler and Marc Tardieu and Laurent Abel and Jean-Laurent Casanova
Science (American Association for the Advancement of Science), ISSN 0036-8075, 10/2006, Volume 314, Issue 5797, pp. 308 - 312
Memory interference | Exons | Cell lines | Fibroblasts | Human herpesvirus 1 | Viruses | Agonists | Reports | Infections | Immunity | Vero cells | Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Biological and medical sciences | Viral diseases of the nervous system | Infectious diseases | Medical sciences | Human viral diseases | Viral diseases | Interferons - biosynthesis | Encephalitis, Herpes Simplex - immunology | Interferon-beta - immunology | Humans | Child, Preschool | Infant | Male | Interferons - immunology | Membrane Transport Proteins - physiology | Membrane Transport Proteins - deficiency | Membrane Transport Proteins - genetics | Leukocytes, Mononuclear - immunology | Toll-Like Receptors - physiology | Encephalitis, Herpes Simplex - genetics | Female | Herpesvirus 1, Human - immunology | Genetic Predisposition to Disease | Signal Transduction | Interferon-alpha - biosynthesis | Interferon-beta - biosynthesis | Toll-Like Receptor 3 - agonists | Toll-Like Receptors - agonists | Interferon-alpha - immunology | Toll-Like Receptor 3 - physiology | Pedigree | Interferon-gamma - immunology | Mutation | Cytokines - biosynthesis | Interferon-gamma - biosynthesis | Herpes simplex | Encephalitis | Research | Analysis | Pathology | Genetics | Herpes viruses | Immune system | Index Medicus
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7. Full Text Interleukin 1β Mediates Intestinal Inflammation in Mice and Patients With Interleukin 10 Receptor Deficiency
by Shouval, Dror S and Biswas, Amlan and Kang, Yu Hui and Griffith, Alexandra E and Konnikova, Liza and Mascanfroni, Ivan D and Redhu, Naresh S and Frei, Sandra M and Field, Michael and Doty, Andria L and Goldsmith, Jeffrey D and Bhan, Atul K and Loizides, Anthony and Weiss, Batia and Yerushalmi, Baruch and Yanagi, Tadahiro and Lui, Xiuli and Quintana, Francisco J and Muise, Aleixo M and Klein, Christoph and Horwitz, Bruce H and Glover, Sarah C and Bousvaros, Athos and Snapper, Scott B
Gastroenterology (New York, N.Y. 1943), ISSN 0016-5085, 12/2016, Volume 151, Issue 6, pp. 1100 - 1104
VEOIBD | Ubiquitination | Treg Cell | Caspase-1 | Gastroenterology & Hepatology | Life Sciences & Biomedicine | Science & Technology | Tumor Necrosis Factor-alpha - metabolism | Inflammasomes - metabolism | Colitis - genetics | Humans | Caspase 8 - metabolism | Child, Preschool | Interferon-gamma - metabolism | Interleukin-1beta - genetics | Macrophages | Inflammatory Bowel Diseases - metabolism | Adenosine Triphosphate - pharmacology | NLR Family, Pyrin Domain-Containing 3 Protein - genetics | Inflammasomes - drug effects | Interleukin-1beta - metabolism | Inflammatory Bowel Diseases - pathology | Inflammatory Bowel Diseases - genetics | Interleukin-10 - metabolism | Adult | CD4-Positive T-Lymphocytes | Colitis - immunology | Antirheumatic Agents - therapeutic use | Inflammatory Bowel Diseases - drug therapy | Signal Transduction | NLR Family, Pyrin Domain-Containing 3 Protein - metabolism | Cells, Cultured | Immunity, Innate | Homeodomain Proteins - genetics | Mice, Knockout | Gene Expression Regulation - drug effects | Interleukin-17 - metabolism | Animals | Interleukin 1 Receptor Antagonist Protein - therapeutic use | Interleukin-10 Receptor alpha Subunit - genetics | Colitis - metabolism | Lipopolysaccharides - pharmacology | Protein Biosynthesis - drug effects | Mice | Mutation | Receptors, Interleukin-10 - deficiency | Interleukin-10 - pharmacology | Receptors, Interleukin-10 - genetics | Index Medicus | Abridged Index Medicus
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8. Full Text Lipocalin-2 protein deficiency ameliorates experimental autoimmune encephalomyelitis: The pathogenic role of lipocalin-2 in the central nervous system and peripheral lymphoid tissues
by Nam, Youngpyo and Kim, Jong-Heon and Seo, Minchul and Kim, Jae-Hong and Jin, Myungwon and Jeon, Sangmin and Seo, Jung-Wan and Lee, Won-Ha and Bing, So Jin and Jee, Youngheun and Lee, Won Kee and Park, Dong Ho and Kook, Hyun and Suk, Kyoungho
The Journal of biological chemistry, ISSN 0021-9258, 06/2014, Volume 289, Issue 24, pp. 16773 - 16789
Life Sciences & Biomedicine | Biochemistry & Molecular Biology | Science & Technology | Oncogene Proteins - genetics | Spinal Cord - metabolism | Encephalomyelitis, Autoimmune, Experimental - metabolism | Acute-Phase Proteins - genetics | Interferon-gamma - metabolism | Myelin Sheath - metabolism | Matrix Metalloproteinase 9 - metabolism | T-Lymphocytes - metabolism | Lipocalins - genetics | Matrix Metalloproteinase 9 - genetics | Spinal Cord - pathology | Gene Deletion | Nuclear Receptor Subfamily 1, Group F, Member 3 - metabolism | Interferon-gamma - genetics | Neutrophils - metabolism | Dendritic Cells - metabolism | Nuclear Receptor Subfamily 1, Group F, Member 3 - genetics | Lipocalins - metabolism | Acute-Phase Proteins - metabolism | Mice, Inbred C57BL | Cells, Cultured | Oncogene Proteins - metabolism | Interleukin-17 - genetics | Lymphoid Tissue - metabolism | Receptors, Cell Surface - metabolism | Interleukin-17 - metabolism | Lymphoid Tissue - pathology | Animals | Lipocalin-2 | Myelin Sheath - genetics | Mice | Astrocytes - metabolism | Receptors, Cell Surface - genetics | Index Medicus | Multiple Sclerosis | Autoimmune Disease | Central Nervous System | Neurobiology | EAE | LCN2 | Neuroinflammation | Astrocyte | Microglia
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9. Full Text Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome
by Kreins, Alexandra Y and Ciancanelli, Michael J and Okada, Satoshi and Kong, Xiao-Fei and Ramírez-Alejo, Noé and Kilic, Sara Sebnem and El Baghdadi, Jamila and Nonoyama, Shigeaki and Mahdaviani, Seyed Alireza and Ailal, Fatima and Bousfiha, Aziz and Mansouri, Davood and Nievas, Elma and Ma, Cindy S and Rao, Geetha and Bernasconi, Andrea and Kuehn, Hye Sun and Niemela, Julie and Stoddard, Jennifer and Deveau, Paul and Cobat, Aurelie and Azbaoui, Safa El and Sabri, Ayoub and Lim, Che Kang and Sundin, Mikael and Avery, Danielle T and Halwani, Rabih and Grant, Audrey V and Boisson, Bertrand and Bogunovic, Dusan and Itan, Yuval and Moncada-Velez, Marcela and Martinez-Barricarte, Ruben and Migaud, Melanie and Deswarte, Caroline and Alsina, Laia and Kotlarz, Daniel and Klein, Christoph and Muller-Fleckenstein, Ingrid and Fleckenstein, Bernhard and Cormier-Daire, Valerie and Rose-John, Stefan and Picard, Capucine and Hammarstrom, Lennart and Puel, Anne and Al-Muhsen, Saleh and Abel, Laurent and Chaussabel, Damien and Rosenzweig, Sergio D and Minegishi, Yoshiyuki and Tangye, Stuart G and Bustamante, Jacinta and Casanova, Jean-Laurent and Boisson-Dupuis, Stéphanie
The Journal of experimental medicine, ISSN 0022-1007, 2015, Volume 212, Issue 10, pp. 1641 - 1662
Immunology | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Job Syndrome - genetics | Humans | TYK2 Kinase - metabolism | Child, Preschool | Infant | Male | TYK2 Kinase - deficiency | Interferon-gamma - metabolism | Case-Control Studies | Young Adult | T-Lymphocytes - metabolism | Female | T-Lymphocytes - pathology | Child | Interleukin-12 - pharmacology | Mycobacterium Infections - etiology | Interleukin-12 - metabolism | Virus Diseases - etiology | Interleukin-23 - pharmacology | Interleukin-6 - pharmacology | Job Syndrome - complications | Adolescent | Leukocytes - drug effects | Mutation | TYK2 Kinase - genetics | Interleukin-10 - pharmacology | Leukocytes - metabolism | Job Syndrome - etiology | Index Medicus | Medicin och hälsovetenskap
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