Table 1 Clinical features and outcomes in IPEX patients with the same deletion (c. 748–750 del AAG) in FOXP3 gene
References | Age at onset | Age at diagnosis | Diarrhoea | T1DM | Eczema | Additional Clinical findings | IgE (IU/ml) | Family history | Therapy | Outcome |
|---|---|---|---|---|---|---|---|---|---|---|
8 | 2 months | 9 years | + | + | – | Arthritis, ITP, mild hepatitis | na | A brother died at 15 months of age with similar clinical presentation. | CS, CSA, tacrolimus, rofecoxib, MTX, infliximab, rituximab, BMT | Died from respiratory distress on post-BMT day 94. |
9 | 2 months | 5 years | vomiting | + | + | MCNS, food allergy, haemolytic anaemia, sepsis | 1141 | Mother’s two brothers died at the age of 1 year due to sepsis. | CSA, CS | na |
10 | 2 months | 4 years | + Celiac disease-like pattern in small bowel biopsies | + | + | AIH, anaemia | N | – | CS, CSA, AZA, BMT | Alive, 6 years |