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

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 eczemat...

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Detalles Bibliográficos
Autores principales: Kao, Andrew S., Deirawan, Hany, Poowuttikul, Pavadee, Daveluy, Steven
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10500051/
https://www.ncbi.nlm.nih.gov/pubmed/37720709
http://dx.doi.org/10.1002/ccr3.7614
Descripción
Sumario: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.

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