Kao Andrew S, Deirawan Hany, Poowuttikul Pavadee, Daveluy Steven
Department of Dermatology Wayne State University School of Medicine Dearborn Michigan USA.
Department of Pediatrics Division of Allergy, Immunology, and Rheumatology Central Michigan University Dearborn Michigan USA.
Clin Case Rep. 2023 Sep 13;11(9):e7614. doi: 10.1002/ccr3.7614. eCollection 2023 Sep.
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.
磷酸葡萄糖变位酶3（PGM3）催化免疫系统前体蛋白的糖基化。其功能受损会导致严重感染以及其他发育、肌肉骨骼和神经系统缺陷。我们报告了一例2个月大的女性患者，该患者反复感染且患有对皮质类固醇耐药的弥漫性湿疹性皮炎。针对遗传性免疫功能障碍综合征的下一代测序（NGS）基因检测板显示关键免疫调节因子存在多个意义未明的变异，特别是PGM3第4外显子上的杂合突变c.337C⟩G（p.Pro113Ala），这是PGM3相关疾病中的一种新变异。度普利尤单抗的超说明书使用带来了快速改善。
