Interleukin-2 receptor alpha-subunit deficiency and spontaneous perforation secondary to cytomegalovirus (CMV) colitis

The authors present the difficulties of diagnosis and treatment of a 9-year-old girl with IL-2 receptor alpha-subunit (IL-2Rα) deficiency -a rare type of severe combined immunodeficiency (ID)- causing severe complications. She was born of an uneventful dizygotic twin pregnancy and had only mild infections in early childhood. Her female co-twin is healthy. At 5 years of age autoimmune haemolytic anaemia was diagnosed; corticosteroids (CS) were given which could be tapered soon. In the following years while she was on low-dose CS every other day she had only mild infections and two haemolytic crises, the latter tr…