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Journal Article
Nature genetics, ISSN 1546-1718, 01/2014, Volume 46, Issue 3, pp. 279 - 286
The molecular mechanisms determining the transmissibility and prevalence of drug-resistant tuberculosis in a population were investigated through whole-genome... 
Genes, Bacterial | Prevalence | Prospective Studies | Humans | Drug Resistance, Multiple, Bacterial/genetics | Mycobacterium tuberculosis/drug effects | Phylogeny | Tuberculosis, Multidrug-Resistant/epidemiology | Virulence/genetics | Bacterial Proteins/genetics | DNA-Directed RNA Polymerases | Russia/epidemiology | Polymorphism, Single Nucleotide | Mutation | Evolution, Molecular | Extensively Drug-Resistant Tuberculosis/epidemiology | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Bacterial Proteins - genetics | Mycobacterium tuberculosis - drug effects | Tuberculosis, Multidrug-Resistant - epidemiology | Extensively Drug-Resistant Tuberculosis - epidemiology | Mycobacterium tuberculosis - pathogenicity | Tuberculosis, Multidrug-Resistant - microbiology | Virulence - genetics | Extensively Drug-Resistant Tuberculosis - transmission | Tuberculosis, Multidrug-Resistant - transmission | Extensively Drug-Resistant Tuberculosis - microbiology | Drug Resistance, Multiple, Bacterial - genetics | Russia - epidemiology | Mycobacterium tuberculosis - genetics | Drug resistance in microorganisms | Medical research | Disease transmission | Tuberculosis | Medicine, Experimental | Genetic aspects | Research | Confidence intervals | Antibiotics | Mortality | Software | Genomes | Drug resistance | Patients | Public health | Index Medicus
Journal Article
Nature reviews. Immunology, ISSN 1474-1741, 09/2016, Volume 16, Issue 11, pp. 702 - 714
Journal Article
Journal of allergy and clinical immunology, ISSN 0091-6749, 2012, Volume 130, Issue 6, pp. 1428 - 1432
[...]she received several courses of steroids, rituximab (with prophylactic immunoglobulin replacement), and mycophenolate mofetil. Because of further chest... 
Allergy and Immunology | Humans | Child, Preschool | Agammaglobulinemia/complications | Adaptor Proteins, Signal Transducing/genetics | Sequence Deletion/genetics | Autoimmune Diseases/complications | Erythema Nodosum/complications | Homozygote | DNA Mutational Analysis | Anemia, Hemolytic/complications | Exome/genetics | Female | Consanguinity | Child | Cell Line, Transformed | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Autoimmune Diseases - physiopathology | Agammaglobulinemia - complications | Agammaglobulinemia - genetics | Autoimmune Diseases - complications | Anemia, Hemolytic - genetics | Agammaglobulinemia - physiopathology | Autoimmune Diseases - genetics | Exome - genetics | Erythema Nodosum - genetics | Erythema Nodosum - complications | Erythema Nodosum - physiopathology | Anemia, Hemolytic - complications | Adaptor Proteins, Signal Transducing - genetics | Anemia, Hemolytic - physiopathology | Sequence Deletion - genetics | Autoimmunity | Children's hospitals | Genes | Genetic research | Children | Universities and colleges | Health aspects | Diseases | Proteins | Lymphocytes | Mutation | Vaccines | Tetanus | Age | Immune system | Streptococcus infections | Index Medicus | Abridged Index Medicus | CVID | exome sequencing | autoimmunity | deletion | gene | Primary immunodeficiency
Journal Article
Science (American Association for the Advancement of Science), ISSN 1095-9203, 08/2018, Volume 361, Issue 6404, pp. 810 - 813
RIPK1 (receptor-interacting serine/threonine kinase 1) is a master regulator of signaling pathways leading to inflammation and cell death and is of medical... 
Receptor-Interacting Protein Serine-Threonine Kinases/genetics | b_open_article_in_toll_access_journal | Humans | Arthritis/genetics | Male | Severe Combined Immunodeficiency/genetics | Fibroblasts/metabolism | Pedigree | Mitogen-Activated Protein Kinases/metabolism | Alleles | Female | Cytokines/metabolism | Inflammatory Bowel Diseases/genetics | Lymphopenia/genetics | Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Cytokines - metabolism | Inflammatory Bowel Diseases - immunology | Severe Combined Immunodeficiency - immunology | Arthritis - genetics | Fibroblasts - pathology | Severe Combined Immunodeficiency - genetics | Receptor-Interacting Protein Serine-Threonine Kinases - genetics | Inflammatory Bowel Diseases - genetics | Arthritis - immunology | Lymphopenia - genetics | Fibroblasts - metabolism | Mitogen-Activated Protein Kinases - metabolism | Gastrointestinal diseases | Colorectal diseases | Physiological aspects | Immunological deficiency syndromes | Genetic aspects | Arthritis | Health aspects | Protein kinases | Mutation (Biology) | Animal models | Inflammatory bowel diseases | Stem cell transplantation | Transplantation | Kinases | Hematopoietic stem cells | Proteins | Signal transduction | Pathways | Intestine | Age | Immune system | Cytokines | Threonine | Immunodeficiency | Organs | MAP kinase | Patients | Hemopoiesis | Signaling | Lymphopenia | Cell death | Stem cells | Polyarthritis | Mice | Protein-serine/threonine kinase | Mutation | Apoptosis | Index Medicus
Journal Article
Journal of allergy and clinical immunology, ISSN 0091-6749, 02/2017, Volume 139, Issue 2, pp. 597 - 606.e4
Background Activated phosphoinositide 3-kinase δ syndrome (APDS) is a recently described combined immunodeficiency resulting from gain-of-function mutations in... 
Allergy and Immunology | Recurrence | Humans | Middle Aged | Child, Preschool | Infant | Male | Antibiotic Prophylaxis | Class I Phosphatidylinositol 3-Kinases/antagonists & inhibitors | Young Adult | Immunoglobulins, Intravenous/therapeutic use | Enzyme Inhibitors/therapeutic use | Lymphoproliferative Disorders/genetics | Adult | Female | Surveys and Questionnaires | Child | Respiratory Tract Infections/genetics | Mutation/genetics | Hematopoietic Stem Cell Transplantation | International Cooperation | Herpesviridae Infections/genetics | Animals | Adolescent | Survival Analysis | Mice | Immunologic Deficiency Syndromes/genetics | Cohort Studies | Activated phosphoinositide 3-kinase δ syndrome | hematopoietic stem cell transplantation | phosphoinositide 3-kinase δ | immunodeficiency | phosphoinositide 3-kinase inhibitor | PIK3CD gene | bronchiectasis | p110δ-activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Class I Phosphatidylinositol 3-Kinases - genetics | Herpesviridae Infections - mortality | Respiratory Tract Infections - genetics | Lymphoproliferative Disorders - therapy | Respiratory Tract Infections - mortality | Respiratory Tract Infections - therapy | Immunologic Deficiency Syndromes - mortality | Herpesviridae Infections - genetics | Immunologic Deficiency Syndromes - therapy | Lymphoproliferative Disorders - genetics | Mutation - genetics | Class I Phosphatidylinositol 3-Kinases - antagonists & inhibitors | Enzyme Inhibitors - therapeutic use | Lymphoproliferative Disorders - mortality | Herpesviridae Infections - therapy | Immunoglobulins, Intravenous - therapeutic use | Immunologic Deficiency Syndromes - genetics | Index Medicus | Abridged Index Medicus | Immune Deficiencies, Infection, and Systemic Immune Disorders | HSCT, Hematopoietic stem cell transplantation | BALF, Bronchoalveolar lavage fluid | CT, Computed tomography | APDS, Activated phosphoinositide-3 kinase δ syndrome | GOF, Gain of function | PI3K, Phosphoinositide 3-kinase | HSV, Herpes simplex virus | CMV, Cytomegalovirus | OR, Odds ratio | PPV, Pneumococcal polysaccharide vaccine | CNS, Central nervous system
Journal Article
Nature genetics, ISSN 1546-1718, 03/2015, Volume 47, Issue 5, pp. 523 - 527
Journal Article
Nature genetics, ISSN 1546-1718, 06/2007, Volume 39, Issue 7, pp. 857 - 864
Journal Article