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Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2013, Volume 131, Issue 6, pp. 1624 - 1634.e17
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2013, Volume 131, Issue 6, pp. 1611 - 1623.e3
Background Mutations in signal transducer and activator of transcription (STAT) 1 cause a broad spectrum of disease, ranging from severe viral and bacterial... 
Allergy and Immunology | Signal transducer and activator of transcription 1 | regulatory T cell | immune dysregulation–polyendocrinopathy–enteropathy–X-linked | chronic mucocutaneous candidiasis | forkhead box protein 3 | aneurysms | immune dysregulation-polyendocrinopathy-enteropathy-X-linked | IMMUNOLOGY | DEFICIENCY | DISEASES | ALLERGY | REGULATORY T-CELLS | IPEX | EXPRESSION | IMMUNODEFICIENCY | T-Lymphocytes, Regulatory - metabolism | Polyendocrinopathies, Autoimmune - diagnosis | Humans | Transcriptional Activation | Interleukin-17 - immunology | Child, Preschool | Male | Intestinal Diseases - immunology | Lymphocyte Subsets - immunology | T-Lymphocytes, Regulatory - immunology | Lymphocyte Subsets - metabolism | STAT1 Transcription Factor - metabolism | Genes, Dominant | Th17 Cells - metabolism | Interleukins - immunology | Female | Genetic Diseases, X-Linked - genetics | Polyendocrinopathies, Autoimmune - genetics | Phosphorylation - drug effects | Child | Intestinal Diseases - genetics | Immunophenotyping | DNA - metabolism | Forkhead Transcription Factors - genetics | STAT1 Transcription Factor - genetics | Genetic Diseases, X-Linked - diagnosis | Syndrome | Interferon-alpha - immunology | Polyendocrinopathies, Autoimmune - immunology | Genetic Diseases, X-Linked - immunology | Intestinal Diseases - diagnosis | Autoantibodies - immunology | Phenotype | Adolescent | Th17 Cells - immunology | Mutation | Cell Line, Transformed | Interferon-gamma - pharmacology | Autoimmunity | Medical colleges | Invisibility | Molecular genetics | Mycoses | Aneurysms | Genetic aspects | Children | Health aspects
Journal Article
Journal of Pediatrics, The, ISSN 0022-3476, 2016, Volume 176, pp. 204 - 206
Myeloperoxidase deficiency is the most common inherited phagocyte disorder (1:2000) and causes an abnormal dihydrorhodamine oxidation test, which also is seen... 
Pediatrics | myeloperoxidase deficiency | dihydrorhodamine | neutrophil | chronic granulomatous disease | candida
Journal Article
Journal Article
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2010, Volume 125, Issue 2, pp. 424 - 432.e8
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 138, Issue 3, pp. 903 - 905
  Multiple cell surface receptors converge on the induction of NF-κB activation, including CD40, the Toll-like receptors, TNF-α receptor, IL-1 receptor, and... 
Allergy and Immunology | ALLERGY | IMMUNOLOGY | Mycoses | Health aspects | Communicable diseases | Immunodeficiency | Urine | Antigens | Lymphatic system | Disease | Infections | Mutation | Patients | Defects
Journal Article
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2014, Volume 135, Issue 6, pp. 1638 - 1641.e5
Journal Article
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2011, Volume 128, Issue 5, pp. 1124 - 1127
  For statistical analysis, we used the Mann-Whitney U test (GraphPad Prism; GraphPad Software, Inc, La Jolla, Calif). Because of multiple comparisons, we used... 
Allergy and Immunology | MATRIX METALLOPROTEINASES | MUTATIONS | IMMUNOLOGY | ALLERGY | STAT3 | Job Syndrome - genetics | Humans | Metalloproteases - blood | Adolescent | Adult | Female | Job Syndrome - blood | Male | Mutation | Child | STAT3 Transcription Factor - genetics | Circuit components | Immunoglobulin E | Plasma | Disease | Aneurysms | Blood banks | Age | Cell adhesion & migration
Journal Article
by Shungin, Dmitry and Winkler, Thomas W and Croteau-Chonka, Damien C and Ferreira, Teresa and Locke, Adam E and Mägi, Reedik and Strawbridge, Rona J and Pers, Tune H and Fischer, Krista and Justice, Anne E and Workalemahu, Tsegaselassie and Wu, Joseph M. W and Buchkovich, Martin L and Heard-Costa, Nancy L and Roman, Tamara S and ng, Alexander W and Song, Ci and Gustafsson, Stefan and Day, Felix R and Esko, Tonu and Fall, Tove and Kutalik, Zoltán and Luan, Jian'an and Randall, Joshua C and Scherag, Ané and Vedantam, Sailaja and Wood, Anew R and Chen, Jin and Fehrmann, Rudolf and Karjalainen, Juha and Kahali, Bratati and Liu, Ching-Ti and Schmidt, Ellen M and Absher, Devin and Amin, Najaf and Anderson, Denise and Beekman, Marian and Bragg-Gresham, Jennifer L and Buyske, Steven and Demirkan, Ayse and Ehret, Georg B and Feitosa, Mary F and Goel, Anuj and Jackson, Anne U and Johnson, Toby and Kleber, Marcus E and Henneman, Peter and Hovingh, G. Kees and Kastelein, John J. P and Chen, Wei and PAGE Consortium and LifeLines Cohort Study and CARDIOGRAMplusC4D Consortium and MuTHER Consortium and ICBP and ADIPOGEN Consortium and CKDGen Consortium and GEFOS Consortium and Int Endogene Consortium and GENIE Consortium and MAGIC Investigators and ReproGen Consortium and GLGC and ADIPOGen Consortium and International Endogene Consortium and The PAGE Consortium and The International Endogene Consortium and The MAGIC Investigators and The ReproGen Consortium and The CKDGen Consortium and The ADIPOGen Consortium and The ICBP and The CARDIOGRAMplusC4D Consortium and The GENIE Consortium and The GLGC and The GEFOS Consortium and The MuTHER Consortium and The LifeLines Cohort Study and Högskolan Dalarna and Akademin Utbildning, hälsa och samhälle and Medicinsk vetenskap
Nature, ISSN 0028-0836, 2015, Volume 518, Issue 7538, pp. 187 - U378
Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our... 
HUMAN HEIGHT | ABDOMINAL ADIPOSITY | MULTIDISCIPLINARY SCIENCES | COMMON SNPS | SUSCEPTIBILITY LOCI | GLYCEMIC TRAITS | FALSE DISCOVERY | MESENCHYMAL STEM-CELLS | GENOME-WIDE ASSOCIATION | ADIPOGENIC DIFFERENTIATION | SEXUAL-DIMORPHISM | Body Mass Index | Genome-Wide Association Study | Age Factors | Neovascularization, Physiologic - genetics | Epigenesis, Genetic | Humans | Male | Continental Population Groups - genetics | Sex Characteristics | Obesity - genetics | Europe - ethnology | Genome, Human - genetics | Adipose Tissue - metabolism | Insulin - metabolism | Models, Biological | Adipocytes - metabolism | Insulin Resistance - genetics | Polymorphism, Single Nucleotide - genetics | Female | Body Fat Distribution | Transcription, Genetic - genetics | Adipogenesis - genetics | Waist-Hip Ratio | Quantitative Trait Loci - genetics | Adipose tissues | Quantitative trait loci | Genetic research | Genetic aspects | Research | Metabolism | Health aspects | Studies | Body mass index | Genealogy | Body fat | Insulin resistance | Genetics | Genomes | Abdomen | Meta-analysis | Life Sciences | Adipocytes/metabolism Adipogenesis/genetics Adipose Tissue/metabolism Age Factors Body Fat Distribution Body Mass Index Continental Population Groups/genetics Epigenesis, Genetic Europe/ethnology Female Genome, Human/genetics Genome-Wide Association Study Humans Insulin/metabolism Insulin Resistance/genetics Male Models, Biological Neovascularization, Physiologic/genetics Obesity/genetics Polymorphism, Single Nucleotide/genetics Quantitative Trait Loci/genetics Sex Characteristics Transcription, Genetic/genetics Waist-Hip Ratio | Clinical Medicine | Hälsa och välfärd | Medical and Health Sciences | Klinisk medicin | Medicin och hälsovetenskap | Health and Welfare
Journal Article