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Table 1 Clinical features and outcomes in IPEX patients with the same deletion (c. 748–750 del AAG) in FOXP3 gene

From: A case of Metaplastic atrophic gastritis in immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) syndrome

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
  1. na, not available; N, within normal ranges; ITP, idiopathic thrombocytopenic purpura; MCNS, minimal change nephrotic syndrome; AIH, autoimmune hepatitis; CS, corticosteroid; CSA, cyclosporine; MTX, methotrexate; MP, mercaptopurine; AZA, azathioprine; BMT, Bone marrow transplantation