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Ann Indian Acad Neurol. 2019 Apr-Jun;22(2):231-233. doi: 10.4103/aian.AIAN_430_17.

Immunodeficiency, Motor Delay, and Hypouricemia Caused by a Novel Mutation of Purine Nucleoside Phosphorylase Gene in an Indian Infant.

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Department of Pediatric Neurology, Rainbow Children's Hospital, Hyderabad, Telangana, India.
Department of Pediatric Hemato-Oncology, Rainbow Children's Hospital, Hyderabad, Telangana, India.
Department of Clinical Genetics, MedGenome Laboratory, Bengaluru, Karnataka, 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.


Adenosine deaminase deficiency; hypouricemia; purine nucleoside phosphorylase deficiency; severe combined immunodeficiency

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