Hyper <scp>IgE</scp> syndrome‐related disease treated with dupilumab: A case report-Reference-Cited by-同舟云学术

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

Published:2023-09 Issue:9 Volume:11 Page:
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clinical Case Reports

Author:

Kao Andrew S.¹^ORCID,Deirawan Hany¹,Poowuttikul Pavadee²,Daveluy Steven¹

Affiliation:

1. Department of Dermatology Wayne State University School of Medicine Dearborn Michigan USA

2. Department of Pediatrics Division of Allergy, Immunology, and Rheumatology Central Michigan University Dearborn Michigan USA

Abstract

AbstractPhosphoglucomutase 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.

Publisher

Wiley

Subject

General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.7614

Reference20 articles.

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