Hyper IgE syndrome-related disease treated with dupilumab: A case report.

ABSTRACT

Phosphoglucomutase 3 (PGM3) catalyzes the glycosylation of immune system precursor proteins. Its impairment leads to severe infections and other developmental, musculoskeletal, and nervous system defects. We present a case of a 2-month-old female patient with recurrent infections and diffuse eczematous dermatitis recalcitrant to corticosteroids. A next-generation sequencing NGS gene panel for inherited immune dysfunction syndromes revealed multiple variants of unknown significance in key immune regulators, specifically heterozygous mutation c.337C⟩G (p.Pro113Ala) on exon 4 of PGM3 as a novel variant in the PGM3 associated diseases. Off-label use of dupilumab resulted in rapid improvement.