Pediatric Allergy Immunology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Pediatric Biochemistry Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Pediatr Dermatol. 2024 Jan-Feb;41(1):115-118. doi: 10.1111/pde.15413. Epub 2023 Aug 13.
Prolidase deficiency (PD) is a rare autosomal recessive disorder associated with recurrent infections, immune dysregulation, and autoimmunity. PD is characterized by persistent dermatitis, skin fragility, and non-healing ulcerations on the lower limbs as its main dermatologic characteristics. Herein, we report a boy with PD due to a novel variant in PEPD who had abnormal facies, cognitive impairment, corneal opacity, recurrent infections, and persistent non-healing leg ulcers. Th17 lymphocyte counts and phosphorylated-STAT5 expression following IL-2 stimulation were reduced in our patient as compared to healthy control.
脯氨酰内肽酶缺乏症（PD）是一种罕见的常染色体隐性遗传病，与反复感染、免疫失调和自身免疫有关。PD 的主要皮肤科特征为持续性皮炎、皮肤脆弱和下肢难以愈合的溃疡。本文报告了一例 PEPD 基因变异导致的 PD 患儿，其主要表现为异常面容、认知障碍、角膜混浊、反复感染和下肢难以愈合的溃疡。与健康对照组相比，我们的患者在接受 IL-2 刺激后，Th17 淋巴细胞计数和磷酸化-STAT5 表达减少。
