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Journal of Immunology, ISSN 0022-1767, 04/2008, Volume 180, Issue 7, pp. 4586 - 4595
Journal Article
Journal Article
Science, ISSN 0036-8075, 09/2014, Volume 345, Issue 6204, pp. 1623 - 1627
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 09/2016, Volume 113, Issue 36, p. 10127
  Systemic autoinflammatory diseases are caused by mutations in genes that function in innate immunity. Here, we report an autoinflammatory disease caused by... 
Molecules | Cytokines | Genes | Mutation | Cells
Journal Article
Journal of Immunology, ISSN 0022-1767, 01/2010, Volume 184, Issue 2, pp. 564 - 572
In addition to regulating mast cell homeostasis, the activation of KIT following ligation by stem cell factor promotes a diversity of mast cell responses,... 
FACTOR-RECEPTOR | MIGRATION | RICTOR-MTOR COMPLEX | SUBSTRATE-SPECIFICITY | FC-EPSILON-RI | PHOSPHORYLATION | GROWTH | C-KIT | GSK-3 | PROTEIN-TYROSINE KINASE | IMMUNOLOGY
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 9/2016, Volume 113, Issue 36, pp. 10127 - 10132
Systemic autoinflammatory diseases are caused by mutations in genes that function in innate immunity. Here, we report an autoinflammatory disease caused by... 
Autoinflammatory disease | Cytokines | Nf-κb pathway | Linear deubiquitinase | OTULIN | ACTIVATION | AMYLOPECTINOSIS | NF-kappa B pathway | UBIQUITIN | MULTIDISCIPLINARY SCIENCES | linear deubiquitinase | ASSEMBLY COMPLEX | CELL-DEATH | HOIP | SHARPIN | autoinflammatory disease | INFLAMMATION | LUBAC DEFICIENCY | cytokines | IMMUNODEFICIENCY | Fibroblasts - enzymology | Humans | NF-kappa B - immunology | Child, Preschool | Male | Fever - physiopathology | Leukocytes, Mononuclear - immunology | HEK293 Cells | Female | Child | Cytokines - genetics | Failure to Thrive - physiopathology | Hereditary Autoinflammatory Diseases - pathology | Cytokines - immunology | Dermatitis - physiopathology | Signal Transduction | Hereditary Autoinflammatory Diseases - enzymology | Gene Expression Regulation | Ubiquitin - genetics | Endopeptidases - deficiency | Hereditary Autoinflammatory Diseases - diagnosis | Fibroblasts - pathology | Endopeptidases - immunology | Leukocytes, Mononuclear - pathology | Endopeptidases - genetics | NF-kappa B - genetics | Pedigree | Age of Onset | Alleles | Fibroblasts - immunology | Leukocytes, Mononuclear - enzymology | Panniculitis - physiopathology | Consanguinity | Mutation | Ubiquitin - immunology | Hereditary Autoinflammatory Diseases - genetics | Allelomorphism | Genetic aspects | Gene mutations | Autoimmune diseases | Health aspects | Biological Sciences | NF-κB pathway
Journal Article
Journal of Experimental Medicine, ISSN 0022-1007, 2015, Volume 212, Issue 10, pp. 1641 - 1662
Journal Article
PLoS Pathogens, ISSN 1553-7366, 2015, Volume 11, Issue 12, p. e1005293
Journal Article
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 01/2018, Volume 141, Issue 1, pp. 432 - 435.e7
[...]our findings indicate a molecular diagnosis of IKAROS haploinsufficiency in patients II:3 and II:4 and their asymptomatic mother (subject I:2). Because... 
IMMUNITY | MUTATIONS | IMMUNOLOGY | HEMATOPOIESIS | ALLERGY | Bacterial infections | Ikaros protein | Leukemia | Families & family life | Arthritis | Patients | Streptococcus infections | Haploinsufficiency | Proteins | Lymphocytes B | Bone marrow | Tetanus | Mutation | Age
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 07/2018, Volume 128, Issue 7, pp. 3071 - 3087
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 08/2014, Volume 371, Issue 6, pp. 507 - 518
The stimulator of interferon genes (STING) protein bridges sensors of cytosolic DNA and the inflammatory pathway mediated by interferon-β. Activating mutations... 
MEDICINE, GENERAL & INTERNAL | FAMILIAL CHILBLAIN LUPUS | CYCLIC GMP-AMP | DNA | PROTEASOME SUBUNIT | LIPODYSTROPHY | SENSOR | MONOGENIC AUTOINFLAMMATORY DISEASES | EXPRESSION | I INTERFERON | INBORN-ERRORS | Up-Regulation | Phosphorylation | Humans | Infant | Male | Interferon-gamma - metabolism | Inflammation - metabolism | STAT1 Transcription Factor - metabolism | Skin Diseases, Vascular - genetics | Genes, Dominant | Female | Transcription, Genetic | Interferon-gamma - genetics | Cytokines - genetics | Infant, Newborn | Fibroblasts - metabolism | Skin Diseases, Vascular - metabolism | Cytokines - metabolism | Membrane Proteins - genetics | Sequence Analysis, DNA | Syndrome | Janus Kinases - antagonists & inhibitors | Lung Diseases - genetics | Pedigree | Age of Onset | Inflammation - genetics | Mutation | Pulmonary manifestations of general diseases | Blood circulation disorders | Genetic aspects | Research | Gene mutations | Risk factors | Transcription | Genes | Guanosine | Leukocytes (mononuclear) | Arthritis | Interleukin 6 | Cell activation | Vascular diseases | Lymphocytes | Cyclic GMP | Interleukin 1 | Peripheral blood | Fingers & toes | Fibroblasts | Janus kinase | Skin diseases | Children | Stat1 protein | Age | Deoxyribonucleic acid--DNA | Phenotypes | AMP | Patients | Endothelial cells | Studies | Biopsy | Ligands | Interferon | Autoimmune diseases | Apoptosis
Journal Article
The Journal of experimental medicine, ISSN 0022-1007, 03/2017, Volume 214, Issue 3, pp. 623 - 637
Journal Article