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?
Related Questions:
1. What is the significance of the mutation?
2. Why is this more likely to happen in boys rather than girls?
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Basic Immunology
The mutation in the common gamma chain is found in X-linked SCID, which also explains why boys are more affected than girls. This gamma c chain is required for functional IL-2, IL-4, IL-7, IL-9, IL-15, and IL-21 receptors. A deficiency leads to severe combined immunodeficiency, a loss of both arms of the adaptive immune system. It is severe and can lead to recurrent infections.
One unusual and fascinating clinical presentation of SCID is graft versus host disease due to maternal chimerism. Maternal T lymphocytes are engrafted into the neonate transplacentally during the perinatal period. The neonate lacks alloreactive T lymphocytes to eliminate the maternal T cells (the neonate of course has inherited only half of the maternal genes). The maternal T cells then mount a graft versus host disease on the neonate.
Source: Alex Penn, Somatic Gene Therapy by Patricia Chang through Google Books, Wikipedia.
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