TY - JOUR
T1 - Dermatologic Manifestations of Monogenic Autoinflammatory Diseases
AU - Shwin, Kyawt Win
AU - Lee, Chyi Chia Richard
AU - Goldbach-Mansky, Raphaela
N1 - Funding Information:
Disclosure: R. Goldbach-Mansky received study support from SOBI , Novartis , Regeneron and Eli Lilly . The authors are supported by the Intramural Research Program of the NIH , NIAID , NIAMS , and NCI .
Publisher Copyright:
© 2016
PY - 2017/1/1
Y1 - 2017/1/1
N2 - 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.
AB - 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.
KW - Autoinflammatory disorders
KW - IL-1
KW - Immune dysregulation
KW - Neutrophilic dermatoses
KW - Panniculitis
KW - Type I interferon
KW - urticaria
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U2 - 10.1016/j.det.2016.07.005
DO - 10.1016/j.det.2016.07.005
M3 - Review article
C2 - 27890235
AN - SCOPUS:84997514413
SN - 0733-8635
VL - 35
SP - 21
EP - 38
JO - Dermatologic Clinics
JF - Dermatologic Clinics
IS - 1
ER -