| ［1］ |
Peleg H, Ben⁃Chetrit E. Vasculitis in the autoinflammatory diseases［J］. Curr Opin Rheumatol, 2017,29（1）:4⁃11. doi: 10.1097/ BOR.0000000000000347.
|
| ［2］ |
Reddy S, Jia S, Geoffrey R, et al. An autoinflammatory disease due to homozygous deletion of the IL1RN locus［J］. N Engl J Med, 2009,360（23）:2438⁃2444. doi: 10.1056/NEJMoa0809568.
|
| ［3］ |
Sohar E, Gafni J, Pras M, et al. Familial mediterranean fever. a survey of 470 cases and review of the literature［J］. Am J Med, 1967,43（2）:227⁃253.
|
| ［4］ |
Barzilai A, Langevitz P, Goldberg I, et al. Erysipelas⁃like erythema of familial mediterranean fever: clinicopathologic correlation［J］. J Am Acad Dermatol, 2000,42（5 Pt 1）:791⁃795.
|
| ［5］ |
Ben⁃Chetrit E, Yazici H. Non⁃thrombocytopenic purpura in familial Mediterranean fever⁃comorbidity with Henoch⁃Schönlein purpura or an additional rare manifestation of familial Mediterranean fever?［J］. Rheumatology （Oxford）, 2016,55（7）:1153⁃1158. doi: 10.1093/rheumatology/kev378.
|
| ［6］ |
Jain A, Misra DP, Sharma A, et al. Vasculitis and vasculitis⁃like manifestations in monogenic autoinflammatory syndromes［J］. Rheumatol Int, 2018,38（1）:13⁃24. doi: 10.1007/s00296⁃017⁃3839⁃6.
|
| ［7］ |
Ebrahimi⁃Fakhari D, Wahlster L, Mackensen F, et al. Clinical manifestations and longterm followup of a patient with CINCA/NOMID syndrome［J］. J Rheumatol, 2010,37（10）:2196⁃2197. doi: 10.3899/jrheum.100290.
|
| ［8］ |
Rosé CD, Pans S, Casteels I, et al. Blau syndrome: cross⁃sectional data from a multicentre study of clinical, radiological and functional outcomes［J］. Rheumatology （Oxford）, 2015,54（6）:1008⁃1016. doi: 10.1093/rheumatology/keu437.
|
| ［9］ |
Khubchandani RP, Hasija R, Touitou I, et al. Blau arteritis resembling Takayasu disease with a novel NOD2 mutation［J］. J Rheumatol, 2012,39（9）:1888⁃1892. doi: 10.3899/jrheum.120156.
|
| ［10］ |
Wang X, Kuivaniemi H, Bonavita G, et al. CARD15 mutations in familial granulomatosis syndromes: a study of the original Blau syndrome kindred and other families with large⁃vessel arteritis and cranial neuropathy［J］. Arthritis Rheum, 2002,46（11）:3041⁃3045. doi: 10.1002/art.10618.
|
| ［11］ |
Amin SR, Pulido JS. Retinal vasculitis, aneurysms, and neo⁃vascularization in Blau syndrome［J］. JAMA Ophthalmol, 2013,131（5）:677⁃680. doi: 10.1001/jamaophthalmol.2013.413a.
|
| ［12］ |
Liu Y, Jesus AA, Marrero B, et al. Activated STING in a vascular and pulmonary syndrome［J］. N Engl J Med, 2014,371（6）:507⁃518. doi: 10.1056/NEJMoa1312625.
|
| ［13］ |
Munoz J, Rodière M, Jeremiah N, et al. Stimulator of interferon genes⁃associated vasculopathy with onset in infancy: a mimic of childhood granulomatosis with polyangiitis［J］. JAMA Dermatol, 2015,151（8）:872⁃877. doi: 10.1001/jamadermatol.2015.0251.
|
| ［14］ |
Sahin S, Adrovic A, Barut K, et al. Clinical, imaging and genotypical features of three deceased and five surviving cases with ADA2 deficiency［J］. Rheumatol Int, 2018,38（1）:129⁃136. doi: 10.1007/s00296⁃017⁃3740⁃3.
|
| ［15］ |
Schepp J, Proietti M, Frede N, et al. Screening of 181 patients with antibody deficiency for deficiency of adenosine deaminase 2 sheds new light on the disease in adulthood［J］. Arthritis Rheumatol, 2017,69（8）:1689⁃1700. doi: 10.1002/art.40147.
|
| ［16］ |
Drenth JP, Boom BW, Toonstra J, et al. Cutaneous manifestations and histologic findings in the hyperimmunoglobulinemia D syndrome. International Hyper IgD Study Group［J］. Arch Dermatol, 1994,130（1）:59⁃65.
|
| ［17］ |
Lamprecht P, Moosig F, Adam⁃Klages S, et al. Small vessel vasculitis and relapsing panniculitis in tumour necrosis factor receptor associated periodic syndrome （TRAPS）［J］. Ann Rheum Dis, 2004,63（11）:1518⁃1520. doi: 10.1136/ard.2003.016733.
|
| ［18］ |
Hernández⁃Rodríguez J, Ruíz⁃Ortiz E, Tomé A, et al. Clinical and genetic characterization of the autoinflammatory diseases diag⁃nosed in an adult reference center［J］. Autoimmun Rev, 2016,15（1）:9⁃15. doi: 10.1016/j.autrev.2015.08.008.
|
| ［19］ |
Khatibi K, Heit JJ, Telischak NA, et al. Cerebral vascular findings in PAPA syndrome: cerebral arterial vasculopathy or vasculitis and a posterior cerebral artery dissecting aneurysm［J］. BMJ Case Rep, 2015,2015. pii: bcr2015011753. doi: 10.1136/bcr⁃2015⁃011753.
|
| ［20］ |
Niv D, Ramirez JA, Fivenson DP. Pyoderma gangrenosum, acne, and hidradenitis suppurativa （PASH） syndrome with recurrent vasculitis［J］. JAAD Case Rep, 2017,3（1）:70⁃73. doi: 10.1016/j.jdcr.2016.11.006.
|
| ［21］ |
Aksentijevich I, s SL, Ferguson PJ, et al. An autoin⁃flammatory disease with deficiency of the interleukin⁃1⁃receptor antagonist［J］. N Engl J Med, 2009,360（23）:2426⁃2437. doi: 10.1056/NEJMoa0807865.
|
| ［22］ |
Zhou Q, Wang H, Schwartz DM, et al. Loss⁃of⁃function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early⁃onset autoinflammatory disease［J］. Nat Genet, 2016,48（1）:67⁃73. doi: 10.1038/ng.3459.
|
