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

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 pur...

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Bibliographic Details

Published in:	Annals of Indian Academy of Neurology
Main Authors:	Nikit Shah, Lokesh Lingappa, Ramesh Konanki, Sirisha Rani, Ramprasad Vedam, Sakthivel Murugan
Format:	Article
Language:	English
Published:	Wolters Kluwer Medknow Publications 2019-01-01
Subjects:	Adenosine deaminase deficiency hypouricemia purine nucleoside phosphorylase deficiency severe combined immunodeficiency
Online Access:	http://www.annalsofian.org/article.asp?issn=0972-2327;year=2019;volume=22;issue=2;spage=231;epage=233;aulast=Shah