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Monogenic autoinflammatory diseases in children: single center experience with clinical, genetic, and imaging review

Authors
  • Alsharief, Alaa N.1, 2
  • Laxer, Ronald M.3
  • Wang, Qiuyan4
  • Stimec, Jennifer1
  • Man, Carina1
  • Babyn, Paul5
  • Doria, Andrea S.1
  • 1 University of Toronto, Toronto, Canada , Toronto (Canada)
  • 2 King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City - Western Region, Old Makkah Road Kilo 24 1 Western, Jeddah, 21423, Saudi Arabia , Jeddah (Saudi Arabia)
  • 3 University of Toronto, Toronto, ON, Canada , Toronto (Canada)
  • 4 York Radiology Consultants, Toronto, ON, Canada , Toronto (Canada)
  • 5 Royal University Hospital, Saskatoon, SK, Canada , Saskatoon (Canada)
Type
Published Article
Journal
Insights into Imaging
Publisher
Springer-Verlag
Publication Date
Jul 31, 2020
Volume
11
Issue
1
Identifiers
DOI: 10.1186/s13244-020-00889-0
Source
Springer Nature
Keywords
License
Green

Abstract

Purpose1. To review the contemporary literature and present a list of the imaging findings for patients with autoinflammatory diseases from our hospital. All these patients are found to have a genetic mutation that is responsible for their disease.2. To present follow-up imaging findings, when available, and correlate those with symptoms and type of treatment administered in approximately 40 patients with autoinflammatory diseases of a single tertiary pediatric health care center including familial Mediterranean fever, Cryopyrin-associated autoinflammatory syndrome, PAPA (pyogenic arthritis, pyoderma gangrenousum, and acne) syndrome, and more. These findings are related to disease progression, treatment response, or treatment-induced changes.ConclusionAutoinflammatory diseases are relatively rare entities that can affect any system of the body. Given the many nonspecific imaging features, awareness of these diseases and good communication with clinicians aid in reaching an accurate diagnosis.

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