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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