Annals of Indian Academy of Neurology
CASE REPORT
Year
: 2019  |  Volume : 22  |  Issue : 2  |  Page : 231--233

Immunodeficiency, motor delay, and hypouricemia caused by a novel mutation of purine nucleoside phosphorylase gene in an Indian infant


Nikit Shah1, Lokesh Lingappa1, Ramesh Konanki1, Sirisha Rani2, Ramprasad Vedam3, Sakthivel Murugan3 
1 Department of Pediatric Neurology, Rainbow Children's Hospital, Hyderabad, Telangana, India
2 Department of Pediatric Hemato-Oncology, Rainbow Children's Hospital, Hyderabad, Telangana, India
3 Department of Clinical Genetics, MedGenome Laboratory, Bengaluru, Karnataka, India

Correspondence Address:
Dr. Lokesh Lingappa
Rainbow Children's Hospital, Road No 10, Banjara Hills, Hyderabad, Telangana - 500 035
India

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 – 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.


How to cite this article:
Shah N, Lingappa L, Konanki R, Rani S, Vedam R, Murugan S. Immunodeficiency, motor delay, and hypouricemia caused by a novel mutation of purine nucleoside phosphorylase gene in an Indian infant.Ann Indian Acad Neurol 2019;22:231-233


How to cite this URL:
Shah N, Lingappa L, Konanki R, Rani S, Vedam R, Murugan S. Immunodeficiency, motor delay, and hypouricemia caused by a novel mutation of purine nucleoside phosphorylase gene in an Indian infant. Ann Indian Acad Neurol [serial online] 2019 [cited 2019 Sep 22 ];22:231-233
Available from: http://www.annalsofian.org/article.asp?issn=0972-2327;year=2019;volume=22;issue=2;spage=231;epage=233;aulast=Shah;type=0