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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Autores principales: Shah, Nikit, Lingappa, Lokesh, Konanki, Ramesh, Rani, Sirisha, Vedam, Ramprasad, Murugan, Sakthivel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6472228/
https://www.ncbi.nlm.nih.gov/pubmed/31007444
http://dx.doi.org/10.4103/aian.AIAN_430_17
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author Shah, Nikit
Lingappa, Lokesh
Konanki, Ramesh
Rani, Sirisha
Vedam, Ramprasad
Murugan, Sakthivel
author_facet Shah, Nikit
Lingappa, Lokesh
Konanki, Ramesh
Rani, Sirisha
Vedam, Ramprasad
Murugan, Sakthivel
author_sort Shah, Nikit
collection PubMed
description 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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spelling pubmed-64722282019-04-19 Immunodeficiency, Motor Delay, and Hypouricemia Caused by a Novel Mutation of Purine Nucleoside Phosphorylase Gene in an Indian Infant Shah, Nikit Lingappa, Lokesh Konanki, Ramesh Rani, Sirisha Vedam, Ramprasad Murugan, Sakthivel Ann Indian Acad Neurol Case Reports 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. Wolters Kluwer - Medknow 2019 /pmc/articles/PMC6472228/ /pubmed/31007444 http://dx.doi.org/10.4103/aian.AIAN_430_17 Text en Copyright: © 2006 - 2019 Annals of Indian Academy of Neurology http://creativecommons.org/licenses/by-nc-sa/4.0 This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Case Reports
Shah, Nikit
Lingappa, Lokesh
Konanki, Ramesh
Rani, Sirisha
Vedam, Ramprasad
Murugan, Sakthivel
Immunodeficiency, Motor Delay, and Hypouricemia Caused by a Novel Mutation of Purine Nucleoside Phosphorylase Gene in an Indian Infant
title Immunodeficiency, Motor Delay, and Hypouricemia Caused by a Novel Mutation of Purine Nucleoside Phosphorylase Gene in an Indian Infant
title_full Immunodeficiency, Motor Delay, and Hypouricemia Caused by a Novel Mutation of Purine Nucleoside Phosphorylase Gene in an Indian Infant
title_fullStr Immunodeficiency, Motor Delay, and Hypouricemia Caused by a Novel Mutation of Purine Nucleoside Phosphorylase Gene in an Indian Infant
title_full_unstemmed Immunodeficiency, Motor Delay, and Hypouricemia Caused by a Novel Mutation of Purine Nucleoside Phosphorylase Gene in an Indian Infant
title_short Immunodeficiency, Motor Delay, and Hypouricemia Caused by a Novel Mutation of Purine Nucleoside Phosphorylase Gene in an Indian Infant
title_sort immunodeficiency, motor delay, and hypouricemia caused by a novel mutation of purine nucleoside phosphorylase gene in an indian infant
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6472228/
https://www.ncbi.nlm.nih.gov/pubmed/31007444
http://dx.doi.org/10.4103/aian.AIAN_430_17
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