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.

• Authors: Andrew S Kao, Hany Deirawan, Pavadee Poowuttikul, Steven Daveluy
• Journal: Clinical case reports (Clin Case Rep) Vol. 11 Issue 9 Pg. e7614 (Sep 2023) ISSN: 2050-0904 [Print] England
• PMID: 37720709 (Publication Type: Case Reports)
• Copyright: © 2023 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.