DOI: 10.1111/pde.15413 ISSN:
Expanding the clinical and immunological phenotype of prolidase deficiency: A case report
Suprit Basu, Prabal Barman, Jhumki Das, Jayakanthan Kabeerdoss, Savita Verma Attri, Rahul Mahajan, Pandiarajan Vignesh, Amit Rawat- Dermatology
- Pediatrics, Perinatology and Child Health
Abstract
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.