Abstract：
:Monogenic autoinflammatory syndromes are a rare group of disorders characterized by periodic episodes of systemic inflammation of endogenous origin. Sometimes, these diseases may present with features akin to vasculitis. We conducted a literature review on such vasculitic manifestations in described monogenic autoinflammatory syndromes utilizing the Online Mendelian Inheritance in Man (OMIM), Medline, and Scopus databases. Our search identified that Familial Mediterranean fever (FMF) can manifest with features of either small, medium, large, or variable-vessel vasculitis. Stimulator of interferon gene (STING)-associated vasculopathy of infancy (SAVI) is an interferonopathy that can mimic the presentation of medium-vessel or small-vessel vasculitis, whereas deficiency of adenosine deaminase 2 (DADA2) is another such mimic of medium-vessel vasculitis, associated in a significant number of patients with features of immunodeficiency. Occasional reports exist of vasculitic manifestations in tumor necrosis factor (TNF) receptor-associated periodic fever syndrome (TRAPS) and chronic infantile neurologic cutaneous and articular disorder (CINCA), whereas mevalonate kinase deficiency can also mimic the presentation of small- or medium-vessel vasculitis. Clinicians should be aware of the possibility of autoinflammatory disease presenting as vasculitis to diagnose and treat the same appropriately.
journal_name
Rheumatol Intjournal_title
Rheumatology internationalauthors
Jain A,Misra DP,Sharma A,Wakhlu A,Agarwal V,Negi VSdoi
10.1007/s00296-017-3839-6subject
Has Abstractpub_date
2018-01-01 00:00:00pages
13-24issue
1eissn
0172-8172issn
1437-160Xpii
10.1007/s00296-017-3839-6journal_volume
38pub_type
杂志文章,评审abstract：:Arachnoid ossificans is a rare type of chronic arachnoiditis characterised by the presence of calcification or ossification of the dura and arachnoid. There are a few reports of these findings in relation to various disease entities, but only one case has been reported in relation to ankylosing spondylitis. We describ...
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pub_type： 杂志文章,多中心研究
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