Patient 3 was a 24-year-old woman. She had suffered from athetoid cerebral palsy due to cardiopulmonary arrest of unknown cause on postnatal day 1. She had developed epilepsy at the age of 4 years and type 1 diabetes with positive anti-glutamic acid decarboxylase antibody at the age of 12 years. At the age of 24 years, she had a fever, facial erythema, and proteinuria. She was diagnosed with systemic lupus erythematosus (SLE) with the following findings: positive antinuclear antibodies, anti-dsDNA antibodies, anti-Sm antibodies, anti-cardiolipin antibodies, hypocomplementemia, and positive direct Coombs test. She had a heterozygous c.2126A>G (p.Gln709Arg) variant of TNFAIP3. Her father had the same variant but lacked any symptoms.\nThe variant Glu192Lys was identified among 55 patients suspected of having autoinflammatory diseases analyzed at Gifu University Hospital from October 2017 to September 2020. The patients with variants Ile310Thr and Gln709Arg were recruited by personal communication with the collaborators (Nagasaki University and Tokyo Medical and Dental University).\nWritten informed consent to participate in this study was obtained from each of the patients or their parents. This study was conducted in accordance with the Declaration of Helsinki and approved by the ethics boards of Gifu University and Tokyo Medical and Dental University.
Patient 1 (III-2 in Fig. a) is a 35-year-old male who is the second child of non-consanguineous Japanese parents. He presented with fever and lymphadenopathy at the age of 6. He was diagnosed with BD at 7 years of age because of recurrent oral and perianal ulcers and was prescribed with oral prednisolone (PSL). He had recurrent episodes of high-grade fever (up to 39 °C) associated with lymphadenopathy, pharyngalgia, and nausea. PSL dosage was adjusted according to the patient’s condition, and the withdrawal of PSL was difficult. He did not show any ophthalmological or neurological symptoms. He is currently treated with PSL (12.5 mg/day) and colchicine (1.0 mg/day).