Resources

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

Annals of Indian Academy of Neurology, Vol. 22, Issue 2, Pages 231-233, 2019

PMID: 31007444

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.

Read More

  https://www.ncbi.nlm.nih.gov/pubmed/31007444

 

Considering Genomic Research?

    Fields marked in * is mandatory to fill
     
     
     

    2024 © MedGenome • All Rights Reserved
    Request a Quote