Affiliation:
1. Pediatric Allergy Immunology Unit, Department of Pediatrics Postgraduate Institute of Medical Education and Research Chandigarh India
2. Pediatric Biochemistry Unit, Department of Pediatrics Postgraduate Institute of Medical Education and Research Chandigarh India
3. Department of Dermatology, Venereology and Leprology Postgraduate Institute of Medical Education and Research Chandigarh India
Abstract
AbstractProlidase 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.
Subject
Dermatology,Pediatrics, Perinatology and Child Health