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Sequencing of the PNP gene revealed a novel mutation resulting in a premature stop codon.<\/jats:p>","DOI":"10.1136\/bcr.09.2011.4804","type":"journal-article","created":{"date-parts":[[2011,12,9]],"date-time":"2011-12-09T05:33:21Z","timestamp":1323408801000},"page":"bcr0920114804","source":"Crossref","is-referenced-by-count":10,"title":["Purine nucleoside phosphorylase deficiency with a novel PNP gene mutation: a first case report from India"],"prefix":"10.1136","volume":"2011","author":[{"given":"Manisha Rajan","family":"Madkaikar","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shilpa","family":"Kulkarni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Prashant","family":"Utage","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lynette","family":"Fairbanks","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kanjaksha","family":"Ghosh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anthony","family":"Marinaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mukesh","family":"Desai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2011,12,9]]},"reference":[{"key":"2025082805284610000_2011.dec08_1.bcr0920114804.1","first-page":"45","article-title":"Purine nucleoside phosphorylase deficiency.","volume":"3","author":"Markert","year":"1991","journal-title":"Immunodefic Rev"},{"key":"2025082805284610000_2011.dec08_1.bcr0920114804.2","unstructured":"Hershfield M Mitchell BS . Immunodeficiency diseases caused by adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency. In: Scriver CR Beaudet AL Sly WS Valle D , eds. The Metabolic and Molecular Bases of Inherited Disease. Eight edition. New york: Mcgraw-Hill 2001:2585\u00e2\u0080\u0093625."},{"key":"2025082805284610000_2011.dec08_1.bcr0920114804.3","doi-asserted-by":"publisher","DOI":"10.1136\/adc.62.4.385"},{"key":"2025082805284610000_2011.dec08_1.bcr0920114804.4","unstructured":"Osborne WR Ochs HD . Immunodeficiency disease due to deficiency of purine nucleoside phosphorylase. In: Ochs HD Smith CIE Puck JM , eds. Primary Immunodeficiency Diseases. A Molecular and Genetic Approach. New york: Oxford University Press 1999:140\u00e2\u0080\u00935."},{"key":"2025082805284610000_2011.dec08_1.bcr0920114804.5","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":"2025082805284610000_2011.dec08_1.bcr0920114804.6","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050787"},{"key":"2025082805284610000_2011.dec08_1.bcr0920114804.7","doi-asserted-by":"crossref","first-page":"1405","DOI":"10.1172\/JCI109058","article-title":"Deoxyguanosine triphosphate as a possible toxic metabolite in the immunodeficiency associated with purine nucleoside phosphorylase deficiency.","volume":"61","author":"Cohen","year":"1978","journal-title":"J Clin Invest"},{"key":"2025082805284610000_2011.dec08_1.bcr0920114804.8","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(96)70285-8"},{"key":"2025082805284610000_2011.dec08_1.bcr0920114804.9","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2004.06.075"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr.09.2011.4804","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T12:28:55Z","timestamp":1756384135000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr.09.2011.4804"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,12,9]]},"references-count":9,"alternative-id":["10.1136\/bcr.09.2011.4804"],"URL":"https:\/\/doi.org\/10.1136\/bcr.09.2011.4804","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2011,12,9]]}}}