The wide variety of IPEX symptoms leads to diagnosis and treatment delay with fatal outcomes if left untreated before two first years of life. Cow's milk allergy non-responsive to amino acid-based formula must raise suspicion of this syndrome.
Keywords: allergy and immunology; gastroenterology and hepatology; genetics; haematology; paediatrics and adolescent medicine.
© 2021 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.