title: Dermatologic Manifestations of Monogenic Autoinflammatory Diseases.
abstract: Autoinflammatory disorders are sterile inflammatory conditions characterized by episodes of early-onset fever, rash, and disease-specific patterns of organ inflammation. Gain-of-function mutations in innate danger-sensing pathways, including the inflammasomes and the nucleic acid sensing pathways, play critical roles in the pathogenesis of IL-1 and Type-I IFN-mediated disorders and point to an important role of excessive proinflammatory cytokine signaling, including interleukin (IL)-1b , Type-I interferons, IL-18, TNF and others in causing the organ specific immune dysregulation. The article discusses the concept of targeting proinflammatory cytokines and their signaling pathways with cytokine blocking treatments that have been life changing for some patients.
authors.affiliation: Translational Autoinflammatory Disease Studies, Rheumatology Fellowship Program, National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Building 10, Room 6D-52, 10 Center Drive, Bethesda, MD 20892, USA; Division of Rheumatic Diseases, UT Southwestern Medical Center, Dallas VA Medical Center, North Texas Health Care System, 4500 S. Lancaster Road, Dallas, TX 75216, USA.
authors.forename: Kyawt Win
authors.initials: KW
authors.lastname: Shwin
authors.affiliation: Dermatopathology Section, Laboratory of Pathology, Center for Cancer Research (CCR), National Cancer Institute (NCI), National Institutes of Health (NIH), Building 10, Room 2S235J, 9000 Rockville Pike, Bethesda, MD 20892, USA.
authors.forename: Chyi-Chia Richard
authors.initials: CR
authors.lastname: Lee
authors.affiliation: Translational Autoinflammatory Disease Studies, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Building 10, Room 6D-47B, 10 Center Drive, Bethesda, MD 20892, USA. Electronic address: goldbacr@mail.nih.gov.
authors.forename: Raphaela
authors.initials: R
authors.lastname: Goldbach-Mansky
mesh_terms: D000305:Adrenal Cortex Hormones / Q000627:therapeutic use; D000742:Anemia, Dyserythropoietic, Congenital / Q000150:complications* / Q000188:drug therapy / Q000235:genetics / Q000276:immunology; D018501:Antirheumatic Agents / Q000627:therapeutic use; D001327:Autoimmune Diseases / Q000150:complications / Q000188:drug therapy / Q000235:genetics / Q000276:immunology; D003078:Colchicine / Q000627:therapeutic use; D056660:Hereditary Autoinflammatory Diseases / Q000150:complications* / Q000188:drug therapy / Q000235:genetics / Q000276:immunology; D006801:Humans; D007153:Immunologic Deficiency Syndromes; D053590:Interleukin 1 Receptor Antagonist Protein / Q000627:therapeutic use; D007375:Interleukin-1 / Q000276:immunology; D020382:Interleukin-18 / Q000276:immunology; D055501:Macrophage Activation Syndrome / Q000150:complications* / Q000188:drug therapy / Q000235:genetics / Q000276:immunology; D010019:Osteomyelitis / Q000150:complications* / Q000188:drug therapy / Q000235:genetics / Q000276:immunology; D012871:Skin Diseases / Q000209:etiology* / Q000473:pathology; D050257:Tubulin Modulators / Q000627:therapeutic use; D014409:Tumor Necrosis Factor-alpha / Q000037:antagonists & inhibitors
chemical_list: D000305:Adrenal Cortex Hormones; D018501:Antirheumatic Agents; D053590:Interleukin 1 Receptor Antagonist Protein; D007375:Interleukin-1; D020382:Interleukin-18; D050257:Tubulin Modulators; D014409:Tumor Necrosis Factor-alpha; D003078:Colchicine
keywords: Autoinflammatory disorders; IL-1; Immune dysregulation; Neutrophilic dermatoses; Panniculitis; Type I interferon; urticaria