دورية أكاديمية
Hyper IgE syndrome‐related disease treated with dupilumab: A case report
| العنوان: | Hyper IgE syndrome‐related disease treated with dupilumab: A case report |
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| المؤلفون: | Andrew S. Kao, Hany Deirawan, Pavadee Poowuttikul, Steven Daveluy |
| المصدر: | Clinical Case Reports, Vol 11, Iss 9, Pp n/a-n/a (2023) |
| بيانات النشر: | Wiley, 2023. |
| سنة النشر: | 2023 |
| المجموعة: | LCC:Medicine LCC:Medicine (General) |
| مصطلحات موضوعية: | dupilumab, HIES‐related disease, pediatric dermatology, Medicine, Medicine (General), R5-920 |
| الوصف: | 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. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2050-0904 |
| Relation: | https://doaj.org/toc/2050-0904 |
| DOI: | 10.1002/ccr3.7614 |
| URL الوصول: | https://doaj.org/article/55ef7fe3540b4a10bac8089e759b840a |
| رقم الأكسشن: | edsdoj.55ef7fe3540b4a10bac8089e759b840a |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 20500904 |
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| DOI: | 10.1002/ccr3.7614 |