Table 2

 Clinical features of patients with Behçet’s disease carrying autoinflammatory gene mutations

Patient numberGenesMutationsGenderCountryAge at onset (years)Age at diagnosis of BD (years)Clinical features
BD, Behçet’s disease; CIAS1, cold-induced autoinflammatory syndrome 1; F, female; MKD, mevalonate kinase deficiency; M, male.
1MVKV377I/S135LFFrance<1 year16 yearsFever: 40°C, chills/monthly; headaches; bipolar aphthosis; erythema nodosum; severe acne; conjunctivitis; abdominal pain; diarrhoea; transient arthralgia; arthritis; febrile and skin reaction after immunisations
2MVKV377I/V377IFFrance30 yearsFever; bipolar aphthosis; macular rash; skin hypersensitivity; erythema nodosum; keratitis; transient arthralgia
3MVKV377I/-MItalian24 years30 yearsbipolar aphthosis; erythema nodosum; folliculitis; uveitis; transient arthralgia
4CIAS1V198MMFrance44 yearsbuccal aphthosis; skin aphthosis; erythema nodosum; uveitis; venous thrombosis; ulcerative colitis; transient arthralgia