{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T19:42:23Z","timestamp":1786650143353,"version":"build-2736575974"},"reference-count":15,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2019,4]]},"abstract":"<jats:sec>\n                    <jats:title\/>\n                    <jats:p>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 \u2013 a rare variant of severe combined immunodeficiency disease. A novel homozygous missense mutation of c.597C&gt;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.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/aian.aian_430_17","type":"journal-article","created":{"date-parts":[[2018,10,22]],"date-time":"2018-10-22T07:33:13Z","timestamp":1540193593000},"page":"231-233","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":5,"title":["Immunodeficiency, Motor Delay, and Hypouricemia Caused by a Novel Mutation of Purine Nucleoside Phosphorylase Gene in an Indian Infant"],"prefix":"10.4103","volume":"22","author":[{"given":"Nikit","family":"Shah","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lokesh","family":"Lingappa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ramesh","family":"Konanki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sirisha","family":"Rani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ramprasad","family":"Vedam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sakthivel","family":"Murugan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-24-20260109","doi-asserted-by":"crossref","first-page":"1243","DOI":"10.1080\/15257770.2011.630852","article-title":"Purine nucleoside phosphorylase deficiency: A mutation update","volume":"30","author":"Walker","year":"2011","journal-title":"Nucleosides Nucleotides Nucleic Acids"},{"key":"R3-24-20260109","doi-asserted-by":"crossref","first-page":"1010","DOI":"10.1016\/S0140-6736(75)91950-9","article-title":"Nucleoside-phosphorylase deficiency in a child with severely defective T-cell immunity and normal B-cell immunity","volume":"1","author":"Giblett","year":"1975","journal-title":"Lancet"},{"key":"R4-24-20260109","doi-asserted-by":"crossref","first-page":"2197","DOI":"10.1084\/jem.191.12.2197","article-title":"Mitochondrial basis for immune deficiency. 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