Vasculitis and vasculitis-like manifestations in monogenic autoinflammatory syndromes

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.

Vasculopathy, Immunodeficiency, and Bone Marrow Failure: The Intriguing Syndrome Caused by Deficiency of Adenosine Deaminase 2

“…On the other hand, vessel wall inflammation also exhibits features of autoinflammation triggered by components of the innate immune system such as neutrophils and complement ( 6 ). Supporting this view, manifestations of vasculitis have been reported in a number of monogenic autoinflammatory syndromes ( 7 , 8 ).…”

Expanding the clinical features of autoinflammation and phospholipase Cγ2‐associated antibody deficiency and immune dysregulation by description of a novel patient

“…3,11 It is not clear whether sensorineural deafness could be related to the ototoxic drugs as antibiotics, methotrexate or vinblastine administered to the only patient with deafness reported to date. 4 Vasculitis as a feature of other AIDs has been described in familial Mediterranean fever, stimulator of interferon gene associated vasculopathy of infancy, 15 adenosine deaminase-2 deficiency, 16,17 tumour necrosis factor receptor-associated periodic syndrome, among others; 18 however, CNSV has not been previously described in APLAID. As the number of reported patients with APLAID is very small, it is possible that the overall spectrum of clinical manifestations of this disease has not been completely elucidated; and consequently, we suggest that CNSV might be an occasional, but severe feature of this disease.…”

Current State of Precision Medicine in Primary Systemic Vasculitides

“…FMF is a common disease in many Eastern Mediterranean countries where the frequency of pathogenic mutations is very high . Although vasculitis is not a primary feature of FMF, IgAV and PAN have been reported in about 3 and 1% of FMF patients, respectively (206). FMF-associated mutations predispose to the development of BD in the Turkish population (207)(208)(209)(210).…”