Purine nucleoside phosphorylase deficiency with a novel PNP gene mutation: a first case report from India. (9th December 2011)

• Record Type: Journal Article
• Authors: Madkaikar, Manisha Rajan; Kulkarni, Shilpa; Utage, Prashant; Fairbanks, Lynette; Ghosh, Kanjaksha; Marinaki, Anthony; Desai, Mukesh
• Is Part Of: BMJ case reports. Volume 2011
• Publication Date: 2011-12-09
• Subjects: Medicine -- Case studies -- Periodicals; 610.5
• DOI: 10.1136/bcr.09.2011.4804
• Languages: English
• ISSNs: 1757-790X

Abstract

Abstract : The authors report a case of purine nucleoside phosphorylase (PNP) deficiency for the first time from India. The case presented with recurrent severe infections, developmental delays, seizures and progressive neurological deterioration. The diagnosis of primary immunodeficiency disorder was delayed in spite of recurrent infection due to predominant neurological symptoms. Sequencing of the PNP gene revealed a novel mutation resulting in a premature stop codon.