Sofia Rosenzweig
A5019213380- Inflammasome and immune disorders
- Immunodeficiency and Autoimmune Disorders
- interferon and immune responses
- Otitis Media and Relapsing Polychondritis
- Blood disorders and treatments
- Autoimmune and Inflammatory Disorders Research
- Dermatological and Skeletal Disorders
- Cytomegalovirus and herpesvirus research
- Hypertrophic osteoarthropathy and related conditions
- Hidradenitis Suppurativa and Treatments
- Autoimmune Bullous Skin Diseases
- Platelet Disorders and Treatments
- Immune Response and Inflammation
- Ocular Diseases and Behçet’s Syndrome
- Atherosclerosis and Cardiovascular Diseases
- Urticaria and Related Conditions
- IL-33, ST2, and ILC Pathways
- Oropharyngeal Anatomy and Pathologies
- RNA modifications and cancer
- Eosinophilic Disorders and Syndromes
- Phagocytosis and Immune Regulation
- Systemic Lupus Erythematosus Research
- NF-κB Signaling Pathways
- Adenosine and Purinergic Signaling
- Autoimmune and Inflammatory Disorders
National Human Genome Research Institute
2019-2024
National Institutes of Health
2015-2023
Rady Children's Hospital-San Diego
2023
National Institute of Arthritis and Musculoskeletal and Skin Diseases
2015
Adult-onset inflammatory syndromes often manifest with overlapping clinical features. Variants in ubiquitin-related genes, previously implicated autoinflammatory disease, may define new disorders.We analyzed peripheral-blood exome sequence data independent of phenotype and inheritance pattern to identify deleterious mutations genes. Sanger sequencing, immunoblotting, immunohistochemical testing, flow cytometry, transcriptome cytokine profiling were performed. CRISPR-Cas9-edited zebrafish...
The deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessively inherited disease that has undergone extensive phenotypic expansion since being first described in patients with fevers, recurrent strokes, livedo racemosa, and polyarteritis nodosa 2014. It now recognized may develop multisystem spans multiple medical subspecialties. Here, we describe the findings from a large single center longitudinal cohort 60 patients, broad presentation, as well highlight cohort’s experience...
Disabling pansclerotic morphea (DPM) is a rare systemic inflammatory disorder, characterized by poor wound healing, fibrosis, cytopenias, hypogammaglobulinemia, and squamous-cell carcinoma. The cause unknown, mortality high.We evaluated four patients from three unrelated families with an autosomal dominant pattern of inheritance DPM. Genomic sequencing independently identified heterozygous variants in specific region the gene that encodes signal transducer activator transcription 4 (STAT4)....
Abstract Regulatory B cells restrict immune and inflammatory responses across a number of contexts. This capacity is mediated primarily through the production IL-10. Here we demonstrate that induction regulatory program in human dependent on metabolic priming event driven by cholesterol metabolism. Synthesis intermediate geranylgeranyl pyrophosphate (GGPP) required to specifically drive IL-10 production, attenuate Th1 responses. Furthermore, GGPP-dependent protein modifications control...
To test the hypothesis that ROSAH (retinal dystrophy, optic nerve oedema, splenomegaly, anhidrosis and headache) syndrome, caused by dominant mutation in
To study the molecular pathogenesis of PAPA (pyogenic arthritis, pyoderma gangrenosum and acne) syndrome, a debilitating hereditary autoinflammatory disease caused by dominant mutation in
RELA haploinsufficiency is a recently described autoinflammatory condition presenting with intermittent fevers and mucocutaneous ulcerations. The gene encodes the p65 protein, one of five NF-κB family transcription factors. As an essential regulator mucosal homeostasis, leads to decreased signaling which promotes TNF-driven apoptosis impaired epithelial recovery. Thus far, only eight cases have been reported in literature. Here, we report four families three novel previously pathogenic...
Background Monogenic autoinflammatory diseases (AID) are caused by mutations in innate immune genes. The effects of these on allergic inflammation unknown. Objectives We investigated allergic, immunological and clinical phenotypes FMF (familial Mediterranean fever), CAPS (cryopyrin-associated periodic syndrome), TRAPS (tumour necrosis factor receptor-associated HIDS (hyper-IgD PAPA (pyogenic arthritis, pyoderma gangrenosum acne), DADA2 (deficiency adenosine deaminase 2), HA20...
<h3>Background</h3> Two thirds of the 1700 patients seen at our NIH clinic for autoinflammatory diseases do not have a genetic diagnosis. Whole exome sequencing permits analysis most protein coding regions human genome. <h3>Methods</h3> With use whole and candidate gene screening, we identified five children from four unrelated families, who had unexplained disease shared mutations in one common gene. One family Saudi Arabia was consanguineous with two affected daughters. The second mixed...