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- Title
Expanding the clinical and immunological phenotype of prolidase deficiency: A case report.
- Authors
Basu, Suprit; Barman, Prabal; Das, Jhumki; Kabeerdoss, Jayakanthan; Attri, Savita Verma; Mahajan, Rahul; Vignesh, Pandiarajan; Rawat, Amit
- 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.
- Subjects
DISEASE relapse; LYMPHOCYTE count; LEG ulcers; PHENOTYPES; SKIN ulcers; COGNITION disorders; CORNEAL opacity
- Publication
Pediatric Dermatology, 2024, Vol 41, Issue 1, p115
- ISSN
0736-8046
- Publication type
Article
- DOI
10.1111/pde.15413