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 |