Project description:Acute febrile neutrophilic dermatosis (Sweet syndrome) is a potentially fatal multiorgan inflammatory disease characterized by fever, leukocytosis, and rash with a neutrophilic infiltrate. Disease pathophysiology remains elusive. Corticosteroids and steroid sparing agents remain mainstays of treatment, but refractory cases pose a clinical challenge. Transcriptomic profiling of a refractory Sweet syndrome patient will improve our understanding of pathophysiology of the disease and, ultimately wiil help us to find a guided therapy. We used microarray to perform molecular characterization of a particular refractory Sweet Syndrome patient and to identify altered pathways that may be targeted via currently available small molecular inhibitors.
Project description:Sjögren's syndrome is an autoimmune disease manifesting primarily as dryness of eyes and mouth. In this study, we compared gene expression in PBMCs between age- and gender-matched patients with Sjögren's syndrome (diagnosed by ACR criteria) and healthy controls. Cells were collected in heparinized tubes and PBMCs were prepared using Ficoll. Eleven patients with Sjögren's syndrome and 16 healthy controls were analyzed for expression of TRIM21, IRF1, IRF2, IRF4 and IRF8.
Project description:Sjögren's syndrome is an autoimmune disease manifesting primarily as dryness of eyes and mouth. In this study, we compared gene expression in PBMCs between age- and gender-matched patients with Sjögren's syndrome (diagnosed by ACR criteria) and healthy controls. Cells were collected in heparinized tubes and PBMCs were prepared using Ficoll.
Project description:Investigating differential gene expression between clinical phenotypes in primary Sjögren's Syndrome using matched healthy controls as a further comparator group. Samples are derived from the UK Primary Sjögren's Syndrome Registry (UKPSSR)
Project description:VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a recently described monogenic disease of adult men cause by somatic mutations in UBA1 in hematopoietic progenitor cells. It associates inflammatory-related symptoms, frequently involving the skin, and hematologic disorders. Myelodysplasia cutis, also recently described, is a cutaneous manifestation of myelodysplasia in which clonal myeloid cells infiltrate the skin. In both cases, skin lesions are due to the infiltration of clonal mutated myeloid cells and may clinically and histologically resemble sweet syndrome, a non-clonal neutrophilic skin disease. The aim of this study was to decipher the underlying mechanisms driving these three myeloid-related skin diseases using RNA-sequencing compared with healthy control skins and leukemia cutis, a neoplastic myeloid-related skin condition.
Project description:Differences in gene regulation between healthy glucocorticoid receptor N363S single nucleotide polymorphism carriers and noncarrier controls may underlie the emergence of metabolic syndrome, Type 2 diabetes and cardiovascular disease associated with the N363S polymorphism.
Project description:Guillain-Barré syndrome (GBS) is an immune-mediated peripheral neuropathy that debilitates the voluntary and autonomous response of the patient. In this study the transcriptome of peripheral blood mononuclear cells from a GBS patient and her healthy twin were compared to discover possible correlates of disease progression and recovery. Blood samples were collected simultaneously from the Guillain-Barré patient (A) and from her control healthy twin (B) at three different time points during disease progression from hospitalization in the intensive care unit (T1), passing to intermediate care (T2), and at conclusion of locomotion rehabilitation program when the patient was close to abandon the hospital (T3).