Expanding the clinical and immunological phenotype of prolidase deficiency: A case report.

Autor: Basu S; Pediatric Allergy Immunology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India., Barman P; Pediatric Allergy Immunology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India., Das J; Pediatric Allergy Immunology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India., Kabeerdoss J; Pediatric Biochemistry Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India., Attri SV; Pediatric Biochemistry Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India., Mahajan R; Department of Dermatology, Venereology and Leprology, Postgraduate Institute of Medical Education and Research, Chandigarh, India., Vignesh P; Pediatric Allergy Immunology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India., Rawat A; Pediatric Allergy Immunology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Jazyk: angličtina
Zdroj: Pediatric dermatology [Pediatr Dermatol] 2024 Jan-Feb; Vol. 41 (1), pp. 115-118. Date of Electronic Publication: 2023 Aug 13.
DOI: 10.1111/pde.15413
Abstrakt: 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.
(© 2023 Wiley Periodicals LLC.)
Databáze: MEDLINE
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