This case idea is contributed by Alex Penn. It is really cool.
As an immunology expert, you are consulted on a two day old boy with a known mutation in the common gamma chain cytokine receptor polypeptide. The boy has been kept in sterile isolation in the hospital after a normal uncomplicated vaginal birth. He presents with weeping and scaling erythroderma. The neonatalogist notes that he has malabsorption and hypoalbuminemia. The team rules out any infectious cause because of the sterile isolation.
Challenge: What is going on here?
1. What is the significance of the mutation?
2. Why is this more likely to happen in boys rather than girls?