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Nature Genetics, ISSN 1061-4036, 09/2014, Volume 46, Issue 10, pp. 1140 - 1146
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
Journal of Clinical Investigation, ISSN 0021-9738, 07/2018, Volume 128, Issue 7, pp. 3041 - 3052
Journal Article
Clinical Pharmacology & Therapeutics, ISSN 0009-9236, 08/2018, Volume 104, Issue 2, pp. 364 - 373
Population pharmacokinetic (popPK) modeling was used to characterize the PK profile of the oral Janus kinase (JAK)1/JAK2 inhibitor, baricitinib, in 18 patients... 
RHEUMATOID-ARTHRITIS | PATHWAYS | EFFICACY | GM-CSF | SAFETY | DISEASE | PROTEASOME SUBUNIT | LIPODYSTROPHY | PHARMACOLOGY & PHARMACY | ANAKINRA | I INTERFERONOPATHIES | CANDLE | Baricitinib pharmacokinetics | monogenic interferonopathies | compassionate use treatment program | SAVI
Journal Article
Journal of the American Academy of Dermatology, ISSN 0190-9622, 01/2019, Volume 80, Issue 1, pp. 291 - 295
Key teaching points: • Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome is an autoinflammatory disorder... 
CANDLE | neutrophilic dermatosis | proteasome | interferonopathy | autoinflammatory | genodermatosis | lipodystrophy | ELEVATED-TEMPERATURE SYNDROME | DYSFUNCTION | ATYPICAL NEUTROPHILIC DERMATOSIS | DERMATOLOGY | Medical research | Communicable diseases | Leukemia | Medicine, Experimental | Lipodystrophy | Arthritis | Skin | Interferon | Histochemistry
Journal Article
Journal Article
Arthritis & Rheumatology, ISSN 2326-5191, 03/2014, Volume 66, pp. S226 - S226
Background/Purpose: Neonatal onset multisystem inflammatory disease (NOMID) is a rare autoinflammatory disease caused by NLRP3 mutations that lead to... 
Journal Article
Journal of Clinical Immunology, ISSN 0271-9142, 07/2017, Volume 37, Issue 5, pp. 445 - 451
Journal Article
Arthritis & Rheumatology, ISSN 2326-5191, 03/2014, Volume 66, pp. S113 - S113
Background/Purpose: Neonatal‐onset multisystem inflammatory disease (NOMID) is an autoinflammatory disease characterized by fever, chronic urticarial rash, CNS... 
Journal Article