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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