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


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:
Lokesh Lingappa,
Rainbow Children's Hospital, Road No 10, Banjara Hills, Hyderabad, Telangana - 500 035
India
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/aian.AIAN_430_17

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.


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