Immunodeficiency, Motor Delay, and Hypouricemia Caused by a Novel Mutation of Purine Nucleoside Phosphorylase Gene in an Indian Infant.
Ann Indian Acad Neurol
; 22(2): 231-233, 2019.
Article
em En
| MEDLINE
| ID: mdl-31007444
ABSTRACT
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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01-internacional
Base de dados:
MEDLINE
Idioma:
En
Revista:
Ann Indian Acad Neurol
Ano de publicação:
2019
Tipo de documento:
Article
País de afiliação:
Índia