Skip to main content


Table 2 Clinical features of patients with TNFAIP3 mutation

From: Expanding the spectrum of A20 haploinsufficiency in two Chinese families: cases report

No Fever Ulcers Musculoskeletal Cardiovascular Intestinal Thyroid Liver lung Genotype Mutation origin
1 Yes No No pericardial effusion No Hypothyroidism Hepatomegaly liver fibrosis No c.559C > T (p.Q187X) Father
2 Yes No Polyarthritis No Diarrhea perianal abscess Crohn’s disease No No No c.559C > T (p.Q187X) Father
3 No Oral Arthralgia No Archosyrinx No No No c.559C > T (p.Q187X) De novo
4 Yes No Polyarthritis No No No No Cough ILD c.259C > T (p.R87X) De novo
  1. ILD Interstitial lung disease