Dermatologic Manifestations of Monogenic Autoinflammatory Diseases

Kyawt Win Shwin; Chyi-Chia Richard Lee; Raphaela Goldbach-Mansky

doi:10.1016/j.det.2016.07.005

Dermatologic Manifestations of Monogenic Autoinflammatory Diseases

Dermatol Clin. 2017 Jan;35(1):21-38. doi: 10.1016/j.det.2016.07.005.

Authors

Kyawt Win Shwin¹, Chyi-Chia Richard Lee², Raphaela Goldbach-Mansky³

Affiliations

¹ 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.
² 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.
³ 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.

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.

Keywords: Autoinflammatory disorders; IL-1; Immune dysregulation; Neutrophilic dermatoses; Panniculitis; Type I interferon; urticaria.

Published by Elsevier Inc.

Publication types

Review

MeSH terms

Adrenal Cortex Hormones / therapeutic use
Anemia, Dyserythropoietic, Congenital / complications*
Anemia, Dyserythropoietic, Congenital / drug therapy
Anemia, Dyserythropoietic, Congenital / genetics
Anemia, Dyserythropoietic, Congenital / immunology
Antirheumatic Agents / therapeutic use
Autoimmune Diseases / complications
Autoimmune Diseases / drug therapy
Autoimmune Diseases / genetics
Autoimmune Diseases / immunology
Colchicine / therapeutic use
Hereditary Autoinflammatory Diseases / complications*
Hereditary Autoinflammatory Diseases / drug therapy
Hereditary Autoinflammatory Diseases / genetics
Hereditary Autoinflammatory Diseases / immunology
Humans
Immunologic Deficiency Syndromes
Interleukin 1 Receptor Antagonist Protein / therapeutic use
Interleukin-1 / immunology
Interleukin-18 / immunology
Macrophage Activation Syndrome / complications*
Macrophage Activation Syndrome / drug therapy
Macrophage Activation Syndrome / genetics
Macrophage Activation Syndrome / immunology
Osteomyelitis / complications*
Osteomyelitis / drug therapy
Osteomyelitis / genetics
Osteomyelitis / immunology
Skin Diseases / etiology*
Skin Diseases / pathology
Tubulin Modulators / therapeutic use
Tumor Necrosis Factor-alpha / antagonists & inhibitors

Substances

Adrenal Cortex Hormones
Antirheumatic Agents
Interleukin 1 Receptor Antagonist Protein
Interleukin-1
Interleukin-18
Tubulin Modulators
Tumor Necrosis Factor-alpha
Colchicine

Supplementary concepts

Majeed syndrome

Grants and funding

ZIA AR041138-14/ImNIH/Intramural NIH HHS/United States