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Table 1 Summary of patients with TNFAIP3 variants

From: Haploinsufficiency of A20 caused by a novel nonsense variant or entire deletion of TNFAIP3 is clinically distinct from Behçet’s disease

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
  1. NSAIDs non-steroidal anti-inflammatory drugs, MTX methotrexate, PSL prednisolone