%0 Journal Article
%T Immunodeficiency, Motor Delay, and Hypouricemia Caused by a Novel Mutation of Purine Nucleoside Phosphorylase Gene in an Indian Infant
%A Lokesh Lingappa
%A Nikit Shah
%A Ramesh Konanki
%A Ramprasad Vedam
%A Sakthivel Murugan
%A Sirisha Rani
%J Archive of "Annals of Indian Academy of Neurology".
%D 2019
%R 10.4103/aian.AIAN_430_17
%X We describe an 11-month-old boy who presented with recurrent respiratory infections from 6 months of age. His elder sister died at 10 months with severe septicemia and meningitis. The boy had a mild motor delay. Investigations revealed T cell deficiency and very low serum uric acid suggestive of purine nucleoside phosphorylase (PNP) deficiency ¨C a rare variant of severe combined immunodeficiency disease. A novel homozygous missense mutation of c.597C>G(p. S199R) of exon 5 on PNP gene confirmed the diagnosis. We suggest that uric acid should be a part of investigation profile for unidentified motor delay, as recurrent infections can be late presentation
%K Adenosine deaminase deficiency
%K hypouricemia
%K purine nucleoside phosphorylase deficiency
%K severe combined immunodeficiency
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6472228/