Family | Family 1 | Family 2 | ||
---|---|---|---|---|
Patient | Patient 1 | Patient 2 | Patient 3 | Patient 4 |
Age | 35 years | 34 years | 12 years | 42 years |
Gender | M | F | F | F |
Detected variant | TNFAIP3 (NM_006290.3) c.1434C>A:p.(Cys478*) | chr6:138192201-138428412 (GRCh37/hg19) deletion (including TNFAIP3) | ||
Initial symptoms | Fever, lymphadenopathy | Oral ulcer, genital ulcer | Periodic fever | Oral ulcer |
Symptom onset | 6 years | 12 years | 2 months | 1 year |
Age at diagnosis | 7 years | 19 years | 11 years | 16 years |
Fever | + | + | + | – |
Lymphadenopathy | + | + | + | + |
Oral ulcers | + | + | + | + |
Genital ulcers | + | + | + | + |
Skin lesions | – | Erythema nodosum, pernio-like rash | – | Folliculitis |
Ophthalmic signs | – | – | Acute anterior uveitis | – |
Digestive signs | Nausea | Abdominal pain, vomits, digestive ulcers, colitis | Abdominal pain, diarrhea, bloody stools, weight loss, digestive ulcers | Abdominal pain |
Musculoskeletal signs | – | – | + | – |
Others | Pharyngalgia | Raynaud’s phenomenon | Pharyngalgia, enlarged tonsil | Thyroiditis |
Treatment | PSL, colchicine | Symptomatic treatment, PSL, colchicine | Colchicine, cimetidine, PSL, mesalazine, NSAIDs, MTX, corticosteroid eye drops | Levothyroxine |