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

被引：9

作者：

Shah, Nikit ^{[1
]}

Lingappa, Lokesh ^{[1
]}

Konanki, Ramesh ^{[1
]}

Rani, Sirisha ^{[2
]}

Vedam, Ramprasad ^{[3
]}

Murugan, Sakthivel ^{[3
]}

机构：

[1] Rainbow Childrens Hosp, Dept Pediat Neurol, Hyderabad, Telangana, India

[2] Rainbow Childrens Hosp, Dept Pediat Hematooncol, Hyderabad, Telangana, India

[3] MedGenome Lab, Dept Clin Genet, Bengaluru, Karnataka, India

来源：

ANNALS OF INDIAN ACADEMY OF NEUROLOGY | 2019年 / 22卷 / 02期

关键词：

Adenosine deaminase deficiency; hypouricemia; purine nucleoside phosphorylase deficiency; severe combined immunodeficiency; DEVELOPMENTAL DELAY; SPASTIC PARAPLEGIA; DEFICIENCY; DIAGNOSIS; CHILD;

D O I：

10.4103/aian.AIAN_430_17

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：231 / 233

页数：3

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