Hyper IgE Syndrome-Related Disease Treated With Dupilumab: A Case Report
Document Type
Article
Publication Date
9-13-2023
Publication Title
Clinical Case Reports
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.
Volume
11
Issue
9
First Page
e7614
Recommended Citation
Kao AS, Deirawan H, Poowuttikul P, Daveluy S. Hyper IgE syndrome-related disease treated with dupilumab: A case report. Clin Case Rep. 2023 Sep 13;11(9):e7614. doi: 10.1002/ccr3.7614. PMID: 37720709.
DOI
10.1002/ccr3.7614
ISSN
2050-0904
PubMed ID
37720709