Waberski, Marta Biderman

Mannose phosphate isomerase–congenital disorder of glycosylation (MPI-CDG) is a CDG presenting with a clinically recognizable presentation, including early hypoglycemia, coagulation defects, and gastrointestinal and hepatic symptoms. We report on a female patient with biallelic pathogenic mutations in the MPI gene who presented with recurrent respiratory infections and abnormal IgM levels, but none of the classic symptoms associated with MPI-CDG. Oral mannose therapy led to a fast improvement in serum IgM levels and transferrin glycosylation in our patient. The patient did not experience severe infections after the initiation of treatment. We also reviewed the immune phenotype in patients so far reported with MPI-CDG.