Article
Purine nucleoside phosphorylase deficiency with a novel PNP gene mutation: a first case report from India.
BMJ case reports - 8 Dec 2011
Madkaikar Manisha Rajan, Kulkarni Shilpa, Utage Prashant, Fairbanks Lynette, Ghosh Kanjaksha, Marinaki Anthony, Desai Mukesh
Abstract excerpt
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...
Topics
- Female
- Humans
- India
- Infant
- Mutation
- Primary Immunodeficiency Diseases
- Purine-Nucleoside Phosphorylase
- Purine-Pyrimidine Metabolism, Inborn Errors
- Severe Combined Immunodeficiency