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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Detalles Bibliográficos
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

Internet

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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