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

Andrew S KaoHany DeirawanPavadee PoowuttikulSteven Daveluy
Published in: Clinical case reports (2023)
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.
Keyphrases
  • atopic dermatitis
  • copy number
  • case report
  • early onset
  • genome wide
  • transcription factor
  • oxidative stress
  • single cell
  • anti inflammatory
  • dna methylation
  • gene expression
  • drug induced
  • genome wide identification