Unexpected combination: DiGeorge syndrome and myeloperoxidase deficiency.

Abstract excerpt

We report a case of a 3-year-old boy who presented with recurrent bacterial and fungal infections and a known diagnosis of partial DiGeorge (22q11.2 deletion) syndrome. The nature and severity of his infections were more than normally expected in partial DiGeorge syndrome with normal T-cell counts and T-cell proliferative response to phytohaemagglutinin. This prompted further investigation of the immune system....

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Bacterial Infections
• Share to Child, Preschool
• Share to DiGeorge Syndrome