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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